Bodil Bjerkehagen

• Sveen, Anita; Bergsland, Christian Holst; Niederdorfer, Barbara; Berstad, Audun Elnæs; Bjerkehagen, Bodil & Boye, Kjetil [Vis alle 8 forfattere av denne artikkelen] (2026). Pembrolizumab in advanced malignant peripheral nerve sheath tumors: a single-arm phase 2 trial. NPJ precision oncology. 10. doi: 10.1038/s41698-026-01303-6. Fulltekst i vitenarkiv Vis sammendrag

  We report a single-arm phase 2 trial of pembrolizumab in advanced malignant peripheral nerve sheath tumors at Oslo University Hospital. Long-lasting response in 1 of 8 patients was associated with high tumor density of PD-1+CD8+ T cells. Mixed response in another patient was associated with PD-L1 expression, and PD-L1 was mostly not co-expressed on CD68+ macrophages or CD8+ cells. The study was prematurely closed due to a slow accrual rate.

• Berndsen, Marta; Renberg, Sara; Hølmebakk, Toto; Hancke, Emma; Puls, Florian & Karlsson, Fredrik [Vis alle 13 forfattere av denne artikkelen] (2023). Long-term outcome after surgical resection of non-high-risk gastrointestinal stromal tumours without adjuvant therapy. British Journal of Surgery. ISSN 0007-1323. 110(12), s. 1857–1862. doi: 10.1093/bjs/znad309. Fulltekst i vitenarkiv Vis sammendrag

  Abstract Background Gastrointestinal stromal tumour (GIST) is the most common intra-abdominal sarcoma. Risk classification systems, commonly the modified National Institutes of Health consensus criteria, identify tumour properties relating to patient outcomes. However, owing to limited long-term evidence, most guidelines recommend up to 10-year follow-up for all risk groups except very low-risk GIST. Methods This retrospective multicentre study included patients who had complete resection of primary, non-metastatic GIST from three Scandinavian sarcoma centres: Gothenburg (2004–2020), Stockholm (2000–2019), and Oslo (2000–2017). Medical records were reviewed for clinical details regarding diagnosis, treatment, and follow-up, and recurrence-free and disease-specific survival evaluated. Results The total cohort consisted of 1213 patients with GIST. High-risk patients and those treated with tyrosine kinase inhibitors were excluded. The remaining 649 patients were included in the present analysis: 118 with very low-, 381 with low-, and 150 with intermediate-risk GISTs. Five-year recurrence-free survival rates were 100, 98.5, and 100 per cent for the intermediate-, low-, and very low-risk groups respectively (P = 0.246). Disease-specific survival rates 10 years after surgery were 100, 98.4, and 100 per cent for the intermediate-, low-, and very low-risk groups respectively (P = 0.262). Conclusion Patients with completely resected non-high-risk GISTs have an excellent long-term outcome, irrespective of risk group. Follow-up programmes to detect disease recurrences in these patients are probably not indicated.

• Høland, Maren; Berg, Kaja Christine Graue; Eilertsen, Ina Andrassy; Bjerkehagen, Bodil; Kolberg, Matthias & Pedersen, Kjetil Boye [Vis alle 16 forfattere av denne artikkelen] (2023). Transcriptomic subtyping of malignant peripheral nerve sheath tumours highlights immune signatures, genomic profiles, patient survival and therapeutic targets. EBioMedicine. 97:104829, s. 1–17. doi: 10.1016/j.ebiom.2023.104829. Fulltekst i vitenarkiv Vis sammendrag

  Background Malignant peripheral nerve sheath tumour (MPNST) is an aggressive orphan disease commonly affecting adolescents or young adults. Current knowledge of molecular tumour biology has been insufficient for development of rational treatment strategies. We aimed to discover molecular subtypes of potential clinical relevance. Methods Fresh frozen samples of MPNSTs (n = 94) and benign neurofibromas (n = 28) from 115 patients in a European multicentre study were analysed by DNA copy number and/or transcriptomic profiling. Unsupervised transcriptomic subtyping was performed and the subtypes characterized for genomic aberrations, clinicopathological associations and patient survival. Findings MPNSTs were classified into two transcriptomic subtypes defined primarily by immune signatures and proliferative processes. “Immune active” MPNSTs (44%) had sustained immune signals relative to neurofibromas, were more frequently low-grade (P = 0.01) and had favourable prognostic associations in a multivariable model of disease-specific survival with clinicopathological factors (hazard ratio 0.25, P = 0.003). “Immune deficient” MPNSTs were more aggressive and characterized by proliferative signatures, high genomic complexity, aberrant TP53 and PRC2 loss, as well as high relative expression of several potential actionable targets (EGFR, ERBB2, EZH2, KIF11, PLK1, RRM2). Integrated gene-wise analyses suggested a DNA copy number-basis for proliferative transcriptomic signatures in particular, and the tumour copy number burden further stratified the transcriptomic subtypes according to patient prognosis (P < 0.01). Interpretation Approximately half of MPNSTs belong to an “immune deficient” transcriptomic subtype associated with an aggressive disease course, PRC2 loss and expression of several potential therapeutic targets, providing a rationale for molecularly-guided intervention trials.

• Sofizadeh, Narmin; Bjerkehagen, Bodil; Solheim, Tore Torsteinson; Sapkota, Dipak & Søland, Tine Merete (2022). The spectrum and frequency of histopathological diagnosis of oral diseases in Oslo: Implications to oral pathology syllabus. European journal of dental education. ISSN 1396-5883. 00, s. 1–7. doi: 10.1111/eje.12808. Fulltekst i vitenarkiv Vis sammendrag

  Introduction To assure knowledge and skills in diagnostic work of oral diseases a continuously updated curriculum is essential. The first aim of the present study was to evaluate the spectrum and frequency of oral histopathological diagnoses signed out by oral pathologists at the Department of Pathology, Oslo University Hospital (OUS), Norway during a two-year period. The second aim was to compare the spectrum of histopathological diagnoses with the content of the current syllabus in oral pathology at the Faculty of Dentistry, University of Oslo (UiO). Materials and Methods In this retrospective cross-sectional study, all histological diagnosis signed out during 2015 and 2016 were included. All histopathological reports were analysed with regard to clinical information and histopathological diagnosis. The spectrum of histopathological diagnoses was compared to the diagnoses presented in lectures and courses for dental and dental hygienist students at UiO. Results Three thousand four hundred and two histopathological reports (47% males and 53% females) were included. The diagnoses were categorised into eight disease groups and the three most frequent disease groups were cysts, benign tumours/reactive lesions, and white, red, ulcerative and vesiculobullous lesions. The lateral periodontal cyst was more frequent than expected. Conclusions We conclude that a minor revision of the syllabus is needed, although the most frequent oral conditions presented in this study are well covered in the oral pathology teaching in Oslo. A more clinical related teaching approach should be considered by categorising oral diseases according to, for example location and age groups.

• Georgiesh, Tatiana; Aggerholm-Pedersen, Ninna; Schöffski, Patrick; Zhang, Yifan; Napolitano, Andrea & Bovée, Judith V. M. G. [Vis alle 33 forfattere av denne artikkelen] (2022). Validation of a novel risk score to predict early and late recurrence in solitary fibrous tumour. British Journal of Cancer. ISSN 0007-0920. 127(10), s. 1793–1798. doi: 10.1038/s41416-022-01959-4. Fulltekst i vitenarkiv
• Boye, Kjetil; Lobmaier, Ingvild Victoria Koren; Kobbeltvedt, Marthe Rosvoll; Thorkildsen, Joachim; Taksdal, Ingeborg & Bjerkehagen, Bodil [Vis alle 10 forfattere av denne artikkelen] (2022). Real-world evidence on perioperative chemotherapy in localized soft tissue sarcoma of the extremities and trunk wall; a population-based study. Acta Oncologica. ISSN 0284-186X. 61(7), s. 793–800. doi: 10.1080/0284186X.2022.2082259. Fulltekst i vitenarkiv Vis sammendrag

  Background Data from the real-world setting on perioperative chemotherapy in high-risk, localized soft tissue sarcoma (STS) is limited. Real-world data (RWD) includes data derived from patients treated outside clinical trials and often captures long-term follow-up not recorded in clinical trials. The aim of this study was to provide population-based, real-world evidence on perioperative chemotherapy in localized STS. Material and methods Adult patients with localized STS in the extremities or trunk wall treated at Oslo University Hospital, Oslo, Norway from 1998 to 2017 were included in the study. Data were extracted from a prospectively maintained database, supplemented by retrospective review of medical records. Results The total study cohort included 806 patients, of whom 154 (19%) received perioperative chemotherapy. A regimen with anthracycline and ifosfamide was given in 141 of 154 cases (92%). During long-term follow-up two patients developed secondary malignancies, cardiac toxicity was registered in 11 patients (7%) and renal toxicity in 12 patients (8%). Seventy-one of 154 patients (46%) were treated outside of clinical trials and constituted the RWD cohort. The median age at surgery was slightly lower and there were more synovial sarcomas and fewer myxofibrosarcomas in the RWD cohort. No difference in chemotherapy dose intensity was observed. The estimated 5-year metastasis-free survival (MFS) in all patients receiving perioperative chemotherapy was 58%. In the RWD cohort 5-year MFS was 53% and in the clinical study cohort 61% (HR 1.24; 95% CI 0.77–2.00). Conclusion Long-term outcome after perioperative chemotherapy was comparable for patients treated in routine clinical practice to those in clinical trials. Secondary malignancy and cardiac toxicity were observed. The risk of serious late side effects should be included in the decision process on perioperative chemotherapy.

• Gorunova, Ludmila; Pedersen, Kjetil Boye; Panagopoulos, Ioannis; Berner, Jeanne-Marie; Bjerkehagen, Bodil & Hompland, Ivar [Vis alle 11 forfattere av denne artikkelen] (2022). Cytogenetic and molecular analyses of 291 gastrointestinal stromal tumors: site-specific cytogenetic evolution as evidence of pathogenetic heterogeneity. OncoTarget. 13(1), s. 508–517. doi: 10.18632/ONCOTARGET.28209. Fulltekst i vitenarkiv Vis sammendrag

  Gastrointestinal stromal tumor (GIST) is a mesenchymal neoplasm with variable behavior. An increased understanding of the tumor pathogenesis may improve clinical decision-making. Our aim was to obtain more data about the overall chromosome aberrations and intratumor cytogenetic heterogeneity in GIST. We analyzed 306 GIST samples from 291 patients using G-banding, direct sequencing, and statistics. Clonal chromosome aberrations were found in 81% of samples, with 34% of 226 primary tumors demonstrating extensive cytogenetic heterogeneity. 135 tumors had simple (≤5 changes) and 91 had complex (>5 changes) karyotypes. The karyotypically complex tumors more often were non-gastric (P < 0.001), larger (P < 0.001), more mitotically active (P = 0.009) and had a higher risk of rupture (P < 0.001) and recurrence (P < 0.001). Significant differences between gastric and non-gastric tumors were found also in the frequency of main chromosome losses: of 14q (79% vs. 63%), 22q (38% vs. 67%), 1p (23% vs. 88%), and 15q (18% vs. 77%). Gastric PDGFRA-mutated tumors, compared with gastric KIT-mutated, had a lower incidence of 22q losses (18% vs. 43%) but a higher rate of 1p losses (42% vs. 22%). The present, largest by far karyotypic study of GISTs provides further evidence for the existence of variable pathogenetic pathways operating in these tumors’ development.

• Davidson, Ben; Kleinberg, Lilach; Børresen, Ida Marie; Slettevoll, Frøydis; Fangberget, Anne & Hindosh, Dunia [Vis alle 8 forfattere av denne artikkelen] (2021). Primary uterine ectomesenchymoma harboring a DICER1 mutation: case report with molecular analysis. Virchows Archiv. ISSN 0945-6317. 479, s. 419–424. doi: 10.1007/s00428-021-03057-x. Fulltekst i vitenarkiv Vis sammendrag

  Abstract Ectomesenchymoma is an exceedingly rare biphasic malignant tumor characterized by the presence of mesenchymal and neuroectodermal elements. The majority of patients are infants or children. We describe the first case of this entity diagnosed as a primary uterine tumor. A 72-year-old female presented with post-menopausal bleeding. Dilatation and curettage showed irregular mesenchymal proliferation of uncertain nature. In the hysterectomy specimen, a myxoid spindle cell tumor with areas of skeletal muscle and neural differentiation was found in the uterus, with direct invasion of the small intestine, and biphasic differentiation into rhabdomyosarcoma and ganglioneuroblastoma was unequivocally seen in a lymph node metastasis. The morphological findings were validated by immunohistochemistry. Massive parallel sequencing identified TP53 , PTEN , and DICER1 mutations in the tumor. This report describes the presence of ectomesenchymoma in an unusual primary organ and in an uncharacteristic age and presents novel data regarding the genetic characteristics of this tumor.

• Hompland, Ivar; Ferrari, Stefano; Bielack, Stefan; Palmerini, Emanuela; Hall, Kirsten Sundby & Picci, Pierro [Vis alle 35 forfattere av denne artikkelen] (2021). Outcome in dedifferentiated chondrosarcoma for patients treated with multimodal therapy: Results from the EUROpean Bone Over 40 Sarcoma Study. European Journal of Cancer. ISSN 0959-8049. 151, s. 150–158. doi: 10.1016/j.ejca.2021.04.017. Fulltekst i vitenarkiv
• Georgiesh, Tatiana; Namløs, Heidi Maria; Sharma, Nitin; Lorenz, Susanne; Myklebost, Ola & Bjerkehagen, Bodil [Vis alle 8 forfattere av denne artikkelen] (2021). Clinical and molecular implications of NAB2-STAT6 fusion variants in solitary fibrous tumour. Pathology (Sydney). ISSN 0031-3025. 53(6), s. 713–719. doi: 10.1016/j.pathol.2020.11.010. Fulltekst i vitenarkiv Vis sammendrag

  Solitary fibrous tumour (SFT) is a mesenchymal neoplasm characterised by pathognomonic NAB2-STAT6 gene fusions. The clinical implications and prognostic value of different fusion variants has not been clarified. In the current study, we explore the clinicopathological, prognostic and molecular differences between tumours with different fusions. Thirty-nine patients with localised, extrameningeal SFT were included, of whom 20 developed distant recurrence and 19 were without recurrence after long term follow-up. Capture-based RNA sequencing identified 12 breakpoint variants, which were categorised into two groups based on the STAT6 domain composition in the predicted chimeric proteins. Twenty-one of 34 (62%) sequenced tumours had fusions with most of the STAT6 domains intact and were classified as STAT6-Full. Thirteen tumours (38%) contained only the transactivation domain of STAT6 and were classified as STAT6-TAD. Tumours with STAT6-TAD fusions had a higher mitotic count (p=0.016) and were associated with inferior recurrence-free interval (p=0.004) and overall survival (p=0.012). Estimated 10-year recurrence-free survival was 25% for patients with STAT6-TAD tumours compared to 78% for the STAT6-Full group. Distinct transcriptional signatures between the fusion groups were identified, including higher expression of FGF2 in the STAT6-TAD group and IGF2, EGR2, PDGFRB, STAT6 and several extracellular matrix genes in STAT6-Full tumours. In summary, we demonstrate that NAB2-STAT6 fusion variants are associated with distinct clinicopathological and molecular characteristics and have prognostic significance in extrameningeal SFT.

• Panagopoulos, Ioannis; Gorunova, Ludmila; Lobmaier, Ingvild Victoria Koren; Andersen, Kristin; Kostolomov, Ilya & Lund-Iversen, Marius [Vis alle 8 forfattere av denne artikkelen] (2020). FOS-ANKH and FOS-RUNX2 fusion genes in osteoblastoma. Cancer Genomics & Proteomics. ISSN 1109-6535. 17(2), s. 161–168. doi: 10.21873/cgp.20176. Fulltekst i vitenarkiv Vis sammendrag

  Background/Aim: Osteoblastoma is a rare benign tumor of the bones in which recurrent rearrangements of FOS have been found. Our aim was to investigate two osteoblastomas for possible genetic aberrations. Materials and Methods: Cytogenetic, RNA sequencing, and molecular analyses were performed. Results: A FOS-ANKH transcript was found in the first tumor, whereas a FOS-RUNX2 was detected in the second. Exon 4 of FOS fused with sequences either from intron 1 of ANKH or intron 5 of RUNX2. The fusion events introduced a stop codon and removed sequences involved in the regulation of FOS. Conclusion: Rearrangements and fusions of FOS show similarities with those of HMGA2 (a feature of leiomyomas and lipomas) and CSF1 (tenosynovial giant cell tumors). The replacement of a 3’-untranslated region, controlling the gene's expression, by a new sequence is thus a common pathogenetic theme shared by FOS, HMGA2, and CSF1 in many benign connective tissue tumors.

• Panagopoulos, Ioannis; Gorunova, Ludmila; Kostolomov, Ilya; Lobmaier, Ingvild Victoria Koren; Bjerkehagen, Bodil & Heim, Sverre (2020). Chronic expanding hematoma with a t(11;19)(q13;q13) chromosomal translocation. Anticancer Research. ISSN 0250-7005. 40(1), s. 97–100. doi: 10.21873/anticanres.13930. Fulltekst i vitenarkiv Vis sammendrag

  Background/Aim: Chronic expanding hematoma is defined as a hematoma that gradually expands over 1 month or longer, is without neoplastic features on histological sections, and does not occur in the setting of coagulopathy. The pathogenetic mechanism behind its development is unknown, nor is anything known about its genetic features. Case Report: A 49-year-old man noted a tender lump close to the right femoral trochanter. Examination of a core needle biopsy showed a fibrous capsule with fibrinoid material on one side. The patient underwent surgery with removal of a cystic, encapsulated structure with central bleeding and proliferating vessels in the fibrous capsule. The reactive fibroblasts were without any sign of atypia. Genetic analyses were performed on this chronic expanding hematoma. Results: G-Banding analysis of short-term cultured cells from the chronic expanding hematoma yielded a karyotype with a single clonal chromosome abnormality: 46,XY,t(11;19)(q13;q13)[8]/46,XY[10]. RNA sequencing and examination of the sequencing data using five different programs did not identify fusion genes related to the translocation. Conclusion: The acquired translocation t(11;19)(q13;q13) suggested that chronic expanding hematoma is a neoplastic lesion. Since the translocation did not lead to any fusion genes, one can speculate that it causes deregulation of gene expression.

• Hall, Kirsten Sundby; Bruland, Øyvind; Bjerkehagen, Bodil; Lidbrink, Elisabet; Jebsen, Nina Louise & Hagberg, Hans [Vis alle 11 forfattere av denne artikkelen] (2020). Preoperative accelerated radiotherapy combined with chemotherapy in a defined cohort of patients with high risk soft tissue sarcoma: a Scandinavian Sarcoma Group study. Clinical Sarcoma Research. 10. doi: 10.1186/s13569-020-00145-5. Fulltekst i vitenarkiv Vis sammendrag

  Background We recently reported outcomes from a Scandinavian Sarcoma Group adjuvant study (SSG XX group A) conducted on localized and operable high risk soft tissue sarcoma (STS) of the extremities and trunk wall. SSG XX, group B, comprised of patients in a defined cohort with locally advanced STS considered at high risk for intralesional surgery. These patients received preoperative accelerated radiotherapy, together with neoadjuvant and adjuvant chemotherapy. Herein we report the results of this group B. Methods Twenty patients with high-grade, locally advanced and deep STS located in lower extremities (n = 12), upper extremities (5) or trunk wall (3) were included. The median age was 59 years and 14 patients were males. The treatment regimen consisted of 6 cycles of doxorubicin (60 mg/m2) and ifosfamide (6 g/m2), with three cycles given neoadjuvantly, and preoperative radiotherapy (1, 8 Gyx2/daily to 36 Gy) between cycles 2 and 3. After a repeated MRI surgery was then conducted, and the remaining 3 chemotherapy cycles were given postoperatively at 3 weeks intervals. Survival data, local control, toxicity of chemotherapy and postoperative complications are presented. Results Median follow-up time for metastasis-free survival (MFS) was 2.8 years (range 0.3–10.4). The 5-year MFS was 49.5% (95% confidence interval [CI] 31.7–77.4). The median follow-up time was 5.4 years (range 0.3–10.4) for overall survival (OS). The 5-year OS was 64.0% (95% CI 45.8–89.4). The median tumour size was 13 cm, with undifferentiated pleomorphic sarcoma (n = 10) and synovial sarcoma (n = 6) diagnosed most frequently. All patients completed surgery. Resection margins were R0 in 19 patients and R1 in 1 patient. No patients had evidence of disease progression preoperatively. Three patients experienced a local recurrence, in 2 after lung metastases had already been diagnosed. Eleven patients (55%) had postoperative wound problems (temporary in 8 and persistent in 3). Conclusions Preoperative chemotherapy and radiotherapy were associated with temporary wound-healing problems. Survival outcomes, local control and toxicities were deemed satisfactory when considering the locally advanced sarcoma disease status at primary diagnosis.

• Serguienko, Ansastassia; Braadland, Peder Rustøen; Meza-Zepeda, Leonardo A.; Bjerkehagen, Bodil & Myklebost, Ola (2020). Accurate 3-gene-signature for early diagnosis of liposarcoma progression. Clinical Sarcoma Research. 10:4, s. 1–11. doi: 10.1186/s13569-020-0126-1. Fulltekst i vitenarkiv Vis sammendrag

  Background Well- and dedifferentiated liposarcoma (WD/DDLPS) are rare mesenchymal malignant tumors that account for 20% of all sarcomas in adults. The WD form is a low-grade malignancy with a favourable prognosis which may progress to DDLPS, a high-grade aggressive counterpart. WDLPS is referred to as atypical lipomatous tumour (ALT) when localised in extremities, due to its better prognosis. Currently the final differential diagnosis to distinguish between more aggressive and less aggressive form is based on post-surgical histological examination and no molecular biomarkers for early detection are available. Methods Quantitative polymerase chain reaction (qPCR) analysis of 11 metabolic genes involved in general and adipose tissue-specific metabolism, was performed on ALT (= 8), WDLPS (= 9) and DDLPS (= 20) samples. Subsequent statistical analysis was carried out to determine genes that most accurately can predict DDLPS differential diagnosis. Selected genes were further validated in a separate cohort by qPCR and the data statistically analysed. Deep sequencing was performed on DDLPS specimen from the metastatic patient and on five random WDLPS specimens. Results We established a three-gene signature based on PNPLA2, LIPE and PLIN1, which identified DDLPS with 100% sensitivity and 90% specificity, even in specimens from the WD component of DDLPS tumors. Interestingly, the PNPLA2 gene is deleted in 45% of DDLPS samples analyzed under TCGA project, and the deletion is associated with significantly lower PNPLA2 expression level. However, other mechanisms causing loss or downregulation of the expression of these three genes may be involved. Moreover, the significantly lower level of PNPLA2 is associated with R1 surgical margins, compare to R0 margins, which suggests the more invasive tumor phenotype in the absence of PNPLA2. Conclusions The identified metabolic signature allows highly accurate differential diagnosis between WD- and DDLPS even in samples containing lipid droplets, a marker of differentiation, which makes it very suitable for the use on biopsies. In respect to the pathogenesis of the disease, our results give a new insight into possible molecular mechanisms involved and support the recent observation that deletion of PNPLA2 is a novel factor in liposarcoma progression.

• Li, Constance H.; Prokopec, Stephenie D.; Sun, Ren X.; Yousif, Fouad; Schmitz, Nathaniel & Aure, Miriam Ragle [Vis alle 51 forfattere av denne artikkelen] (2020). Sex differences in oncogenic mutational processes. Nature Communications. 11:4330, s. 1–24. doi: 10.1038/s41467-020-17359-2. Fulltekst i vitenarkiv Vis sammendrag

  Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.

• Gorunova, Ludmila; Bjerkehagen, Bodil; Micci, Francesca; Heim, Sverre & Panagopoulos, Ioannis (2020). Cytogenetic and Molecular Study of an Adult Sclerosing Rhabdomyosarcoma of the Extremity: MYOD1-mutation and Clonal Evolution. Cancer Genomics & Proteomics. ISSN 1109-6535. 17(5), s. 563–569. doi: 10.21873/CGP.20212. Fulltekst i vitenarkiv Vis sammendrag

  Background: Spindle cell/sclerosing rhabdomyosarcoma is a genomically heterogeneous, uncommon subtype of rhabdomyosarcoma, particularly rare in adults. Its MYOD1-mutant variant is aggressive irrespective of age. Cytogenetic data on spindle cell/sclerosing rhabdomyosarcoma are sparse and disparate. Materials and Methods: Cytogenetic and molecular analyses were performed on an adult sclerosing rhabdomyosarcoma. Results: The karyotype of the sclerosing rhabdomyosarcoma displayed clonal evolution corresponding to two hyperdiploid clones: 48,XY,+i(19)(p10),+22/48,idem,der(9)t(2;9)(q21~22;p21). The changes were gain of chromosome 19 with the overrepresentation of 19p arm, gain of chromosome 22, gain of the 2q arm, and loss of 9p21. Mutation analysis revealed a homozygous c.T365G (p.L122R) mutation of the MYOD1 gene, but none of PIK3CA. Conclusion: To our knowledge, this is the first adult MYOD1-mutant sclerosing rhabdomyosarcoma studied cytogenetically. The only other reported sclerosing rhabdomyosarcoma with MYOD1 mutation and abnormal karyotype was pediatric. Since these tumors are highly aggressive, further studies unravelling their cytogenetic and molecular characteristics are warranted.

• Georgiesh, Tatiana; Boye, Kjetil & Bjerkehagen, Bodil (2020). A novel risk score to predict early and late recurrence in solitary fibrous tumour. Histopathology. ISSN 0309-0167. 77(1), s. 123–132. doi: 10.1111/his.14078. Fulltekst i vitenarkiv Vis sammendrag

  Aims Solitary fibrous tumours (SFTs) are rare mesenchymal neoplasms with recurrence rates of 10–30%. Current risk stratification systems for extrameningeal SFTs are based on cohorts with limited follow‐up and are not suitable for prediction of late recurrences. In this study we aimed to develop a prognostic model accounting for both early and late recurrences using a relatively large patient cohort with long‐term follow‐up. Methods and results Clinicopathological factors were analysed in a cohort of 100 extrameningeal, STAT6‐positive SFTs. Median follow‐up for overall survival (OS) and recurrence‐free interval (RFi) were 121 and 84 months, respectively. Disease relapse occurred in 31% of patients and median time to recurrence was 63 months. In univariate analysis mitotic count, necrosis, male gender and presence of severe atypia and pleomorphism were associated with inferior RFi. Mitotic count, necrosis and male gender were independent predictors of recurrence in multivariate analysis. Previously published risk models were also statistically associated with RFi in our cohort, but failed to reliably identify low‐risk patients due to poor prediction of late recurrences. A novel risk score based on mitotic count, necrosis and gender was able to stratify patients into low‐, intermediate‐ and high‐risk groups for both early and late recurrences. Conclusions In this cohort of patients with extrameningeal SFT and long‐term follow‐up mitotic count, necrosis and gender were independent prognostic markers of recurrence. We propose a novel risk score based on these factors and accounting for late recurrences, which should be validated in external cohorts with sufficient follow‐up time.

• Zapatka, Marc; Borozan, Ivan; Brewer, Daniel S.; Iskar, Murat; Grundhoff, Adam & Alawi, Malik [Vis alle 1 352 forfattere av denne artikkelen] (2020). The landscape of viral associations in human cancers. Nature Genetics. ISSN 1061-4036. 52(3), s. 320–330. doi: 10.1038/s41588-019-0558-9. Fulltekst i vitenarkiv
• Akdemir, Kadir C.; Le, Victoria T.; Chandran, Sahaana; Li, Yilong; Verhaak, Roel G. & Beroukhim, Rameen [Vis alle 1 401 forfattere av denne artikkelen] (2020). Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer. Nature Genetics. ISSN 1061-4036. 52(3), s. 294–305. doi: 10.1038/s41588-019-0564-y. Fulltekst i vitenarkiv
• Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng & Yoon, Christopher J. [Vis alle 1 340 forfattere av denne artikkelen] (2020). Comprehensive molecular characterization of mitochondrial genomes in human cancers. Nature Genetics. ISSN 1061-4036. 52(3), s. 342–352. doi: 10.1038/s41588-019-0557-x. Fulltekst i vitenarkiv
• Rodriguez-Martin, Bernardo; Alvarez, Eva G.; Baez-Ortega, Adrian; Zamora, Jorge; Supek, Fran & Demeulemeester, Jonas [Vis alle 1 441 forfattere av denne artikkelen] (2020). Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics. ISSN 1061-4036. 52(3), s. 306–319. doi: 10.1038/s41588-019-0562-0. Fulltekst i vitenarkiv
• Bailey, Matthew H.; Meyerson, William U.; Dursi, L. Jonathan; Wang, Liang-Bo; Dong, Guanlan & Aure, Miriam Ragle [Vis alle 51 forfattere av denne artikkelen] (2020). Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nature Communications. 11:4748, s. 1–27. doi: 10.1038/s41467-020-18151-y. Fulltekst i vitenarkiv Vis sammendrag

  The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts.

• Cortés-Ciriano, Isidro; Lee, Jake June-Koo; Xi, Ruibin; Jain, Dhawal; Jung, Youngsook L. & Yang, Lixing [Vis alle 1 398 forfattere av denne artikkelen] (2020). Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing. Nature Genetics. ISSN 1061-4036. 52(3), s. 331–341. doi: 10.1038/s41588-019-0576-7. Fulltekst i vitenarkiv
• Analysis, of Whole Genomes Consortium ICGC/TCGA Pan-Cancer; Campbell, Peter J.; Getz, Gad; Korbel, Jan O.; Stuart, Joshua M. & Jennings, Jennifer L. [Vis alle 54 forfattere av denne artikkelen] (2020). Pan-cancer analysis of whole genomes. Nature. ISSN 0028-0836. 578(7793), s. 82–93. doi: 10.1038/s41586-020-1969-6. Fulltekst i vitenarkiv Vis sammendrag

  Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1,2,3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10,11,12,13,14,15,16,17,18.

• Demetri, G.D.; Antonescu, C.R.; Bjerkehagen, Bodil; Bovee, JVMG; Pedersen, Kjetil Boye & Chacón, M. [Vis alle 48 forfattere av denne artikkelen] (2020). Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network. Annals of Oncology. ISSN 0923-7534. 31(11), s. 1506–1517. doi: 10.1016/j.annonc.2020.08.2232. Fulltekst i vitenarkiv
• Rubanova, Yulia; Shi, Ruian; Harrigan, Caitlin F.; Li, Roujia; Wintersinger, Jeff & Sahin, Nil [Vis alle 1 399 forfattere av denne artikkelen] (2020). Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig. Nature Communications. 11(1). doi: 10.1038/s41467-020-14352-7. Fulltekst i vitenarkiv
• Cmero, Marek; Yuan, Ke; Ong, Cheng Soon; Schröder, Jan; Adams, David J. & Anur, Pavana [Vis alle 1 396 forfattere av denne artikkelen] (2020). Inferring structural variant cancer cell fraction. Nature Communications. 11(1). doi: 10.1038/s41467-020-14351-8. Fulltekst i vitenarkiv
• Cmero, Marek; Yuan, Ke; Ong, Cheng Soon; Schröder, Jan; Adams, David J. & Anur, Pavana [Vis alle 1 396 forfattere av denne artikkelen] (2020). Inferring structural variant cancer cell fraction. Nature Communications. 11(1). doi: 10.1038/s41467-020-14351-8. Fulltekst i vitenarkiv
• Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin & Al-Shahrour, Fatima [Vis alle 1 383 forfattere av denne artikkelen] (2020). A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns. Nature Communications. 11(1). doi: 10.1038/s41467-019-13825-8. Fulltekst i vitenarkiv
• Sieverling, Lina; Hong, Chen; Koser, Sandra D.; Ginsbach, Philip; Kleinheinz, Kortine & Hutter, Barbara [Vis alle 1 406 forfattere av denne artikkelen] (2020). Genomic footprints of activated telomere maintenance mechanisms in cancer. Nature Communications. 11(1). doi: 10.1038/s41467-019-13824-9. Fulltekst i vitenarkiv
• Bhandari, Vinayak; Li, Constance H.; Bristow, Robert G.; Boutros, Paul C.; Aaltonen, Lauri A. & Abascal, Federico [Vis alle 1 328 forfattere av denne artikkelen] (2020). Divergent mutational processes distinguish hypoxic and normoxic tumours. Nature Communications. 11(1). doi: 10.1038/s41467-019-14052-x. Fulltekst i vitenarkiv
• Zhang, Yiqun; Chen, Fengju; Fonseca, Nuno A.; He, Yao; Fujita, Masashi & Nakagawa, Hidewaki [Vis alle 1 465 forfattere av denne artikkelen] (2020). High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations. Nature Communications. 11(1). doi: 10.1038/s41467-019-13885-w. Fulltekst i vitenarkiv
• Thorkildsen, Joachim; Taksdal, Ingeborg; Bjerkehagen, Bodil; Norum, Ole-Jacob Anderssen; Myklebust, Tor Åge & Zaikova, Olga (2020). Risk stratification for central conventional chondrosarcoma of bone: A novel system predicting risk of metastasis and death in the Cancer Registry of Norway cohort. Journal of Surgical Oncology. ISSN 0022-4790. 121(7), s. 1115–1125. doi: 10.1002/jso.25883. Fulltekst i vitenarkiv Vis sammendrag

  Background and Objectives Interobserver variability in histological grading of central conventional chondrosarcoma (CCCS) limits the quality of patient information and research progression. We aim to quantify known and new prognostic variables and propose a risk stratification model. Method We selected 149 cases from the Cancer Registry of Norway. Cox proportional hazard models were estimated. Based on these results a dichotomous risk classification was proposed and presented by Kaplan‐Meier estimates for rates of local recurrence, metastasis, and disease‐specific survival. Results The influence of axial skeletal location (Hazard ratio [HR] = 19.06), a soft tissue component ≥1 cm (HR = 13.45), and histological grade 3 (HR = 16.46) are all significant in predicting the rate of metastasis. The creation of a variable combining axial skeletal location and a soft tissue component ≥1 cm strongly predicts the risk of metastasis (HR = 14.02; P < .001) and death (HR = 2.74; P = .030) at multivariate analysis, making the histological grade insignificant. Together with metastasis at diagnosis (HR = 285.65; P < .001), this forms the basis of our proposed risk stratification, producing a small high‐risk group (39 cases with 33% risk of metastasis) and a large low‐risk group (103 cases with 2% risk of metastasis) without a histological grade. Conclusion Axial skeletal location and a soft tissue component ≥1 cm combined divides a CCCS cohort into low‐ and high‐risk groups without a histological grade.

• Panagopoulos, Ioannis; Gorunova, Ludmila; Lobmaier, Ingvild Victoria Koren; Lund-Iversen, Marius; Andersen, Kristin & Holth, Arild [Vis alle 8 forfattere av denne artikkelen] (2019). Fusion of the COL1A1 and Fyn genes in epithelioid osteoblastoma. Cancer Genomics & Proteomics. ISSN 1109-6535. 16(5), s. 361–368. doi: 10.21873/cgp.20141. Fulltekst i vitenarkiv Vis sammendrag

  Background/Aim: Epithelioid osteoblastoma is a rare benign tumor of the bone. Its pathogenesis is unknown and little is known regarding its genetic features. Materials and Methods: Cytogenetic, RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), genomic PCR, and Sanger sequencing analyses were performed on an epithelioid osteoblastoma. Results: G-banding analysis of short-term cultured tumor cells yielded a normal male karyotype in all examined metaphases. RNA sequencing detected a fusion of COL1A1 from 17q21 with FYN from 6q21. Both RT-PCR and genomic PCR together with Sanger sequencing verified the presence of a COL1A1-FYN fusion gene. In the COL1A1-FYN chimeric transcript, exon 43 of COL1A1 was fused to exon 2 of FYN. The genomic junction occurred in introns 43 and 1 of COL1A1 and FYN, respectively. Conclusion: A COL1A1-FYN fusion gene was found in an epithelioid osteoblastoma resulting in deregulation of FYN. Whether COL1A1-FYN represents a consistent genetic feature of epithelioid osteoblastomas, remains to be seen.

• Hølmebakk, Toto; Bjerkehagen, Bodil; Lobmaier, Ingvild Victoria Koren; Hompland, Ivar; Stoldt, Stephan & Pedersen, Kjetil Boye (2019). Is peritoneal tumor penetration of prognostic importance in gastrointestinal stromal tumors? Annals of Surgical Oncology. ISSN 1068-9265. 26(13), s. 4730–4736. doi: 10.1245/s10434-019-07813-x. Fulltekst i vitenarkiv
• Thorkildsen, Joachim; Taksdal, Ingeborg; Bjerkehagen, Bodil; Haugland, Hans Kristian; Johannessen, Tom Børge & Viset, Trond [Vis alle 9 forfattere av denne artikkelen] (2019). Chondrosarcoma in Norway 1990-2013; an epidemiological and prognostic observational study of a complete national cohort. Acta Oncologica. ISSN 0284-186X. 58, s. 273–282. doi: 10.1080/0284186X.2018.1554260. Fulltekst i vitenarkiv Vis sammendrag

  Background: Knowledge of chondrosarcoma (CS) of bone to date is based on institutional reports and registry publications with limits in reporting, detail and quality of data. Method: We have performed a retrospective search of CS of bone in the National Cancer Registry in Norway from 1990-2013, cross checked against local tumor databases with further quality control and supplementation of all data from clinical files. The time period is defined by the routine use of axial imaging in clinical practice. 311 cases are included. We performed 108 pathological reviews and 223 radiological reviews. The manuscript is prepared according to the STROBE checklist for strengthening of observational studies. We perform uni-/multivariate cox analysis to define independent prognostic variables from the main cohort of central CS of bone. Results: The incidence of CS of bone in Norway is 2.85/million/yr. for both sexes overall, rising to 3.45/million/yr. in the last 5 year period. There is an increase in the most common central CS subtype, stronger for women than for men. Central CS has, in general 10-15% local recurrence rates, all evident by 5 years while metastasis rate increases with location and grade. Exceptions are extremity grade 1 CS which displayed no metastatic events and axial grade 3 disease with high rates (50%) of both local and metastatic relapse. Peripheral CS has limited metastatic potential (2%) but rates of local relapse (13%) continue to appear towards 10 years of follow up. Malignancy grade 3 independently predicts rate of metastasis and presence of soft tissue component predicts local recurrence, metastasis and survival. Conclusion: Rates of local recurrence, metastasis and disease specific survival follow clear patterns depending on subtype, location and grade allowing better tailoring of follow up regimes. Malignancy grade 3 and presence of a soft tissue component independently predict behaviour for central CS of bone.

• Høland, Maren; Kolberg, Matthias; Danielsen, Stine Aske; Bjerkehagen, Bodil; Eilertsen, Ina Andrassy & Hektoen, Merete [Vis alle 14 forfattere av denne artikkelen] (2018). Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53. Modern Pathology. ISSN 0893-3952. s. 1–14. doi: 10.1038/s41379-018-0074-y. Fulltekst i vitenarkiv Vis sammendrag

  Malignant peripheral nerve sheath tumor is a rare and aggressive disease with poor treatment response, mainly affecting adolescents and young adults. Few molecular biomarkers are used in the management of this cancer type, and although TP53 is one of few recurrently mutated genes in malignant peripheral nerve sheath tumor, the mutation prevalence and the corresponding clinical value of the TP53 network remains unsettled. We present a multi-level molecular study focused on aberrations in the TP53 network in relation to patient outcome in a series of malignant peripheral nerve sheath tumors from 100 patients and 38 neurofibromas, including TP53 sequencing, high-resolution copy number analyses of TP53 and MDM2, and gene expression profiling. Point mutations in TP53 were accompanied by loss of heterozygosity, resulting in complete loss of protein function in 8.2% of the malignant peripheral nerve sheath tumors. Another 5.5% had MDM2 amplification. TP53 mutation and MDM2 amplification were mutually exclusive and patients with either type of aberration in their tumor had a worse prognosis, compared to those without (hazard ratio for 5-year disease-specific survival 3.5, 95% confidence interval 1.78–6.98). Both aberrations had similar consequences on the gene expression level, as analyzed by a TP53-associated gene signature, a property also shared with the copy number aberrations and/or loss of heterozygosity at the TP53 locus, suggesting a common “TP53-mutated phenotype” in as many as 60% of the tumors. This was a poor prognostic phenotype (hazard ratio = 4.1, confidence interval:1.7–9.8), thus revealing a TP53-non-aberrant patient subgroup with a favorable outcome. The frequency of the “TP53-mutated phenotype” warrants explorative studies of stratified treatment strategies in malignant peripheral nerve sheath tumor.

• Pedersen, Kjetil Boye; Berner, Jeanne-Marie; Hompland, Ivar; Bruland, Øyvind; Stoldt, Stephan & Hall, Kirsten Sundby [Vis alle 8 forfattere av denne artikkelen] (2018). Genotype and risk of tumour rupture in gastrointestinal stromal tumour. British Journal of Surgery. ISSN 0007-1323. 105(2), s. e169–e175. doi: 10.1002/bjs.10743. Fulltekst i vitenarkiv
• Hall, Kirsten Sundby; Bruland, Øyvind; Bjerkehagen, Bodil; Zaikova, Olga; Engellau, Jacob & Hagberg, Oskar [Vis alle 15 forfattere av denne artikkelen] (2018). Adjuvant chemotherapy and postoperative radiotherapy in high-risk soft tissue sarcoma patients defined by biological risk factors—A Scandinavian Sarcoma Group study (SSG XX). European Journal of Cancer. ISSN 0959-8049. 99, s. 78–85. doi: 10.1016/j.ejca.2018.05.011. Fulltekst i vitenarkiv
• Hompland, Ivar; Hølmebakk, Søren Torben; Pedersen, Kjetil Boye; Stoldt, Stephan; Bjerkehagen, Bodil & Berner, Jeanne-Marie [Vis alle 11 forfattere av denne artikkelen] (2018). Multimodal kreftbehandling av gastrointestinal stromal tumor. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 138(15). doi: 10.4045/tidsskr.18.0200. Fulltekst i vitenarkiv
• Hølmebakk, Søren Torben; Bjerkehagen, Bodil; Hompland, Ivar; Stoldt, Stephan & Pedersen, Kjetil Boye (2018). Relationship between R1 resection, tumour rupture and recurrence in resected gastrointestinal stromal tumour. British Journal of Surgery. ISSN 0007-1323. 106(4), s. 419–426. doi: 10.1002/bjs.11027. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Lund-Iversen, Marius; Andersen, Kristin; Lobmaier, Ingvild Victoria Koren & Bjerkehagen, Bodil [Vis alle 7 forfattere av denne artikkelen] (2018). Cytogenetics of spindle cell/pleomorphic lipomas: Karyotyping and fish analysis of 31 tumors. Cancer Genomics & Proteomics. ISSN 1109-6535. 15(3), s. 193–200. doi: 10.21873/cgp.20077. Fulltekst i vitenarkiv Vis sammendrag

  Background: Spindle cell/pleomorphic lipomas are benign tumors. Here, we present our cytogenetic data on 31 such tumors. Materials and Methods: G-banding chromosome analysis and (in selected cases) fluorescence in situ hybridization (FISH) using probes for FOXO1, RB1, and HMGA2 were performed. Results: Rearrangements of chromosome 13 were found in 58% of tumors. Chromosomes 6, 1, 12, and 11 were also involved in 42%, 26%, 26%, and 23% of tumors, respectively. FISH analysis showed heterozygous deletion of RB1 in seven samples with chromosome 13 aberrations. In four of them, FOXO1 was also deleted. In two tumors with 12q15 rearrangements, FISH confirmed that HMGA2 was targeted. Conclusion: Structural rearrangements of 13q or losses of an entire chromosome 13 are the most common cytogenetic aberrations in spindle cell/pleomorphic lipomas. However, cytogenetic variation exists similarly to what is found in other lipomas, suggesting that various pathways may be responsible for tumorigenesis.

• Hølmebakk, Søren Torben; Hompland, Ivar; Bjerkehagen, Bodil; Stoldt, Stephan; Bruland, Øyvind & Hall, Kirsten Sundby [Vis alle 7 forfattere av denne artikkelen] (2018). Recurrence-free survival after resection of gastric gastrointestinal stromal tumors classified according to a strict definition of tumor rupture: a population-based study. Annals of Surgical Oncology. ISSN 1068-9265. 25(5), s. 1133–1139. doi: 10.1245/s10434-018-6353-5. Fulltekst i vitenarkiv
• Kresse, Stine Henrichson; Namløs, Heidi Maria; Lorenz, Susanne; Berner, Jeanne-Marie; Myklebost, Ola & Bjerkehagen, Bodil [Vis alle 7 forfattere av denne artikkelen] (2018). Evaluation of commercial DNA and RNA extraction methods for high-throughput sequencing of FFPE samples. PLOS ONE. 13:e0197456(5), s. 1–12. doi: 10.1371/journal.pone.0197456. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Andersen, Kristin; Lobmaier, Ingvild Victoria Koren; Bjerkehagen, Bodil & Heim, Sverre (2018). Consistent involvement of chromosome 13 in angiolipoma. Cancer Genomics & Proteomics. ISSN 1109-6535. 15(1), s. 61–65. doi: 10.21873/cgp.20065. Fulltekst i vitenarkiv Vis sammendrag

  Background/Aim: Angiolipoma is a rare benign soft tissue tumor composed of mature adipocytes and blood vessels. Genetic information on angiolipomas is scarce. With the single exception of one tumor which carried a t(X;2)(p22;p12), all angiolipomas hitherto investigated cytogenetically had normal karyotypes. Materials and Methods: G-banding chromosome analysis was performed on three short-term cultured angiolipomas. Fluorescence in situ hybridization (FISH) analysis using a commercially available RB1 deletion probe was also done. Results: All three angiolipomas had abnormal karyotypes with loss or structural rearrangement of chromosome 13. The first tumor had the karyotype 46,XY,-6,del(13)(q14),+mar[cp5], the second had 44~45,XY,t(1;10;15)(p21~22;q24;q24),-13[cp5], and the third karyotype was 43,XX,t(13;22;17) (q12;q13; q22~23)[14]. FISH analysis showed heterozygous and homozygous deletion of the RB1 probe in case 2 and 3, respectively. FISH analysis failed in case 1. Conclusion: Chromosome 13 was consistently involved in all three angiolipomas.

• Namløs, Heidi Maria; Pedersen, Kjetil Boye; Mishkin, Skyler J.; Barøy, Tale; Lorenz, Susanne & Bjerkehagen, Bodil [Vis alle 11 forfattere av denne artikkelen] (2018). Noninvasive Detection of ctDNA Reveals Intratumor Heterogeneity and Is Associated with Tumor Burden in Gastrointestinal Stromal Tumor. Molecular Cancer Therapeutics. ISSN 1535-7163. 17(11), s. 2473–2480. doi: 10.1158/1535-7163.MCT-18-0174. Fulltekst i vitenarkiv
• Ferrari, Stefano; Bielack, Stefan S.; Smeland, Sigbjørn; Longhi, Alessandra; Egerer, Gerlinde & Hall, Kirsten Sundby [Vis alle 33 forfattere av denne artikkelen] (2018). EURO-B.O.S.S.: A European study on chemotherapy in bone-sarcoma patients aged over 40: Outcome in primary high-grade osteosarcoma. Tumori (Milano). ISSN 0300-8916. 104(1), s. 30–36. doi: 10.5301/tj.5000696. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Bjerkehagen, Bodil; Andersen, Kristin; Lund-Iversen, Marius & Heim, Sverre (2017). Loss of chromosome 13 material in cellular angiofibromas indicates pathogenetic similarity with spindle cell lipomas. Diagnostic Pathology. 12:17, s. 1–5. doi: 10.1186/s13000-017-0607-6. Fulltekst i vitenarkiv Vis sammendrag

  Background Cellular angiofibroma is a rare benign mesenchymal neoplasm with morphological and immunohistochemical similarities to spindle cell lipoma. Karyotypic information on cellular angiofibroma is restricted to one case only which showed loss of material from chromosomes 13 and 16. A few other studies using fluorescence in situ hybridization showed deletions of the RB1 and FOXO1 loci, both of which are located in chromosome band 13q14. We present here cytogenetic data on two cellular angiofibromas with an abnormal karyotype. Methods G-banding and fluorescence in situ hybridization (FISH) analyses were done on two cellular angiofibromas. Results In both tumors, a rearrangement leading to loss of chromosome 13 material was seen, together with other structural chromosome abnormalities. FISH analysis showed heterozygous deletion of the RB1 locus (13q14) in both cases. Conclusion Our results demonstrate loss of chromosome 13 material in cellular angiofibroma, though not as the sole cytogenetic change, confirming the (cyto)genetic similarity of these tumors with spindle cell lipomas.

• Behjati, Sam; Tarpey, Patrick S.; Haase, Kerstin; Ye, Hongtao; Young, Matthew D. & Alexandrov, Ludmil B. [Vis alle 33 forfattere av denne artikkelen] (2017). Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma. Nature Communications. 8:15936, s. 1–8. doi: 10.1038/ncomms15936. Fulltekst i vitenarkiv
• Namløs, Heidi Maria; Zaikova, Olga; Bjerkehagen, Bodil; Vodak, Daniel; Hovig, Johannes Eivind & Myklebost, Ola [Vis alle 8 forfattere av denne artikkelen] (2017). Use of liquid biopsies to monitor disease progression in a sarcoma patient: a case report. BMC Cancer. 17:29, s. 1–6. doi: 10.1186/s12885-016-2992-8. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Brunetti, Marta; Agostini, Antonio; Andersen, Hege Kilen & Lobmaier, Ingvild Victoria Koren [Vis alle 8 forfattere av denne artikkelen] (2017). Genetic heterogeneity in leiomyomas of deep soft tissue. OncoTarget. 8(30), s. 48769–48781. doi: 10.18632/oncotarget.17953. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Lobmaier, Ingvild Victoria Koren; Andersen, Hege Kilen; Bjerkehagen, Bodil & Heim, Sverre (2017). Cytogenetic analysis of a pseudoangiomatous pleomorphic/spindle cell lipoma. Anticancer Research. ISSN 0250-7005. 37(5), s. 2219–2223. doi: 10.21873/anticanres.11557. Fulltekst i vitenarkiv
• Trovik, Clement; Bauer, Henrik C.F.; Styring, Emelie; Hall, Kirsten Sundby; Steyern, Fredrik Vult Von & Eriksson, Sigvard [Vis alle 23 forfattere av denne artikkelen] (2017). The Scandinavian Sarcoma Group Central Register: 6,000 patients after 25 years of monitoring of referral and treatment of extremity and trunk wall soft-tissue sarcoma. Acta Orthopaedica. ISSN 1745-3674. 88(3), s. 341–347. doi: 10.1080/17453674.2017.1293441. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Lobmaier, Ingvild Victoria Koren; Bjerkehagen, Bodil & Heim, Sverre (2017). Karyotyping and analysis of GNAS locus in intramuscular myxomas. OncoTarget. 8(13), s. 22086–22094. doi: 10.18632/oncotarget.14986. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Lobmaier, Ingvild Victoria Koren; Bjerkehagen, Bodil & Heim, Sverre (2017). Identification of SETD2-NF1 fusion gene in a pediatric spindle cell tumor with the chromosomal translocation t(3;17)(p21;q12). Oncology Reports. ISSN 1021-335X. 37(6), s. 3181–3188. doi: 10.3892/or.2017.5628. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Agostini, Antonio; Lobmaier, Ingvild Victoria Koren; Bjerkehagen, Bodil & Heim, Sverre (2016). Fusion of the HMGA2 and C9orf92 genes in myolipoma with t(9;12)(p22;q14). Diagnostic Pathology. 11(22). doi: 10.1186/s13000-016-0472-8. Fulltekst i vitenarkiv Vis sammendrag

  Background Myolipoma of soft tissue is an extremely rare benign tumor composed of mature adipose tissue and smooth muscle cells. It is found predominantly in women. The cytogenetic and molecular genetic features of myolipomas remain largely unexplored. Here we present the first cytogenetically analyzed myolipoma. Methods Cytogenetic and molecular genetic analyses were done on a myolipoma. Results G-banding analysis of short-term cultured cells from the myolipoma yielded a karyotype with a single clonal chromosome abnormality: 46,XX,t(9;12)(p22;q14). Fluorescence in situ hybridization experiments demonstrated that HMGA2 (in 12q14) was rearranged. Molecular genetic analysis showed that the translocation resulted in fusion of HMGA2 with the C9orf92 gene (from 9p22). The HMGA2-C9orf92 fusion transcript would code for a putative protein containing amino acid residues 1–94 of HMGA2 and 6 amino acid residues from the out-of-frame fusion with exon 4 of C9orf92. Conclusion The pattern of HMGA2 rearrangement in the present case of myolipoma is similar to what is found in other benign connective tissue tumor types, including lipomas, i.e., disruption of the HMGA2 locus leaves intact exons which encode the AT-hook domains but separates them from the 3´-terminal part of the gene. Whether any genetic features differentiate myolipomas from regular lipomas with HMGA2-involvement is a question that cannot be answered until more cases of the former tumor type are subjected to genetic analysis.

• König, Marton Skog Steinberger; Osnes, Terje; Lobmaier, Ingvild Victoria Koren; Bjerkehagen, Bodil; Bruland, Øyvind & Hall, Kirsten Sundby [Vis alle 7 forfattere av denne artikkelen] (2016). Multimodal treatment of craniofacial osteosarcoma with high-grade histology. A single-center experience over 35 years. Neurosurgical review. ISSN 0344-5607. s. 1–12. doi: 10.1007/s10143-016-0802-z. Fulltekst i vitenarkiv Vis sammendrag

  High-grade craniofacial osteosarcoma (CFOS) is an aggressive malignancy with a poor prognosis. Our goals were to evaluate treatment outcomes in those treated at a single referral institution over 35 years and to compare our results to the available literature. A retrospective analysis of all 42 patients treated between 1980 and 2015 at Oslo University Hospital, Norway, identified in a prospectively collected database, was conducted. Mean follow-up was 79.6 months. Overall survival at 2 and 5 years was 70.5 and 44.7%, respectively. The corresponding disease-specific survival rates were 73.0 and 49.8%. Treatment was surgery only in eight cases. Additional therapy was administered in 34 patients: chemotherapy in nine, radiotherapy in seven, and a combination of these in 18 cases. Stratified analysis by resection margins demonstrated significantly better survival at 2 and 5 years after radical surgical treatment. Neoadjuvant chemotherapy and subsequent adequate surgery resulted in better survival than surgery alone. Half of the patients either had a primary or familial cancer predisposition. This is the largest single-center study conducted on high-grade CFOS to date. Our experience indicates that neoadjuvant chemotherapy with complete surgical resection significantly improved survival, compared to surgery alone.

• Agostini, Antonio; Gorunova, Ludmila; Bjerkehagen, Bodil; Lobmaier, Ingvild Victoria Koren; Heim, Sverre & Panagopoulos, Ioannis (2016). Molecular characterization of the t(4;12)(q27~28;q14~15) chromosomal rearrangement in lipoma. Oncology Letters. ISSN 1792-1074. 12(3), s. 1701–1704. doi: 10.3892/ol.2016.4834. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Lund-Iversen, Marius; Lobmaier, Ingvild Victoria Koren; Bjerkehagen, Bodil & Heim, Sverre (2016). Recurrent fusion of the genes FN1 and ALK in gastrointestinal leiomyomas. Modern Pathology. ISSN 0893-3952. 29(11), s. 1415–1423. doi: 10.1038/modpathol.2016.129. Fulltekst i vitenarkiv
• Hølmebakk, Søren Torben; Bjerkehagen, Bodil; Pedersen, Kjetil Boye; Bruland, Øyvind; Stoldt, Stephan & Hall, Kirsten Sundby (2016). Definition and clinical significance of tumour rupture in gastrointestinal stromal tumours of the small intestine. British Journal of Surgery. ISSN 0007-1323. 103(6), s. 684–691. doi: 10.1002/bjs.10104. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Bjerkehagen, Bodil & Heim, Sverre (2015). Novel KAT6B-KANSL1 fusion gene identified by RNA sequencing in retroperitoneal Leiomyoma with t(10;17)(q22;q21). PLOS ONE. 10(1). doi: 10.1371/journal.pone.0117010. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Bjerkehagen, Bodil & Heim, Sverre (2015). Fusion of the genes EWSR1 and PBX3 in retroperitoneal leiomyoma with t(9;22)(q33;q12). PLOS ONE. 10(4). doi: 10.1371/journal.pone.0124288. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Bjerkehagen, Bodil; Lobmaier, Ingvild Victoria Koren & Heim, Sverre (2015). The recurrent chromosomal translocation t(12;18) (q14∼15;q12∼21) causes the fusion gene HMGA2-SETBP1 and HMGA2 expression in lipoma and osteochondrolipoma. International Journal of Oncology. ISSN 1019-6439. 47(3), s. 884–890. doi: 10.3892/ijo.2015.3099. Fulltekst i vitenarkiv
• Zaikova, Olga; Hall, Kirsten Sundby; Styring, Emelie; Eriksson, Mikael; Trovik, Clement & Bergh, Peter [Vis alle 10 forfattere av denne artikkelen] (2015). Referral patterns, treatment and outcome of high-grade malignant bone sarcoma in Scandinavia - SSG Central Register 25 years' experience. Journal of Surgical Oncology. ISSN 0022-4790. 112(8), s. 853–860. doi: 10.1002/jso.24074. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Bjerkehagen, Bodil; Lobmaier, Ingvild Victoria Koren & Heim, Sverre (2015). Fusion of the TBL1XR1 and HMGA1 genes in splenic hemangioma with t(3;6)(q26;p21). International Journal of Oncology. ISSN 1019-6439. 48(3), s. 1242–1250. doi: 10.3892/ijo.2015.3310. Fulltekst i vitenarkiv
• Berner, Kjetil; Bjerkehagen, Bodil; Bruland, Øyvind & Berner, Aasmund (2015). Extraskeletal osteosarcoma in Norway, between 1975 and 2009, and a brief review of the literature. Anticancer Research. ISSN 0250-7005. 35(4), s. 2129–2140. Fulltekst i vitenarkiv
• Berner, Kjetil; Johannesen, Tom Børge; Berner, Aasmund; Haugland, Hans Kristian; Bjerkehagen, Bodil & Bøhler, Per J. [Vis alle 7 forfattere av denne artikkelen] (2015). Time-trends on incidence and survival in a nationwide and unselected cohort of patients with skeletal osteosarcoma. Acta Oncologica. ISSN 0284-186X. 54(1), s. 25–33. doi: 10.3109/0284186X.2014.923934. Fulltekst i vitenarkiv
• Hompland, Ivar; Rizvi, Syed Mohammad H.; Winge, Mona Irene; Norum, Ole-Jacob Anderssen; Bjerkehagen, Bodil & Ringen, Hanne Osnes [Vis alle 9 forfattere av denne artikkelen] (2015). Gutt med sår på fingeren som ikke ville gro. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 135(5), s. 445–448. doi: 10.4045/tidsskr.14.0759. Fulltekst i vitenarkiv
• Danielsen, Stine Aske; Lind, Guro Elisabeth; Kolberg, Matthias; Høland, Maren; Bjerkehagen, Bodil & Hall, Kirsten Sundby [Vis alle 11 forfattere av denne artikkelen] (2015). Methylated RASSF1A in malignant peripheral nerve sheath tumors identifies neurofibromatosis type 1 patients with inferior prognosis. Neuro-Oncology. ISSN 1522-8517. 17(1), s. 63–69. doi: 10.1093/neuonc/nou140. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Bjerkehagen, Bodil; Gorunova, Ludmila; Taksdal, Ingeborg & Heim, Sverre (2015). Rearrangement of chromosome bands 12q14-15 causing HMGA2-SOX5 gene fusion and HMGA2 expression in extraskeletal osteochondroma. Oncology Reports. ISSN 1021-335X. 34(2), s. 577–584. doi: 10.3892/or.2015.4035. Fulltekst i vitenarkiv
• Panagopoulos, Ioannis; Gorunova, Ludmila; Taksdal, Ingeborg; Bjerkehagen, Bodil & Heim, Sverre (2015). Recurrent 12q13-15 chromosomal aberrations, high frequency of isocitrate dehydrogenase 1 mutations, and absence of high mobility group At-hook 2 expression in periosteal chondromas. Oncology Letters. ISSN 1792-1074. 10(1), s. 163–167. doi: 10.3892/ol.2015.3197. Fulltekst i vitenarkiv

Se alle arbeider i NVA

• Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng & Yoon, Christopher J. [Vis alle 1 339 forfattere av denne artikkelen] (2023). Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x). Nature Genetics. ISSN 1061-4036. 55(5), s. 893–893. doi: 10.1038/s41588-020-0587-4. Fulltekst i vitenarkiv
• Rheinbay, Esther; Nielsen, Morten Muhlig; Abascal, Federico; Wala, Jeremiah A.; Shapira, Ofer & Tiao, Grace [Vis alle 1 616 forfattere av denne artikkelen] (2023). Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes (Nature, (2020), 578, 7793, (102-111), 10.1038/s41586-020-1965-x). Nature. ISSN 0028-0836. 614(7948), s. E40–E40. doi: 10.1038/s41586-022-05599-9. Fulltekst i vitenarkiv
• Zapatka, Marc; Borozan, Ivan; Brewer, Daniel S.; Iskar, Murat; Grundhoff, Adam & Alawi, Malik [Vis alle 1 354 forfattere av denne artikkelen] (2023). Author Correction: The landscape of viral associations in human cancers (Nature Genetics, (2020), 52, 3, (320-330), 10.1038/s41588-019-0558-9). Nature Genetics. ISSN 1061-4036. 55(6), s. 1077–1077. doi: 10.1038/s41588-023-01316-y. Fulltekst i vitenarkiv
• Calabrese, Claudia; Davidson, Natalie R.; Demircioğlu, Deniz; Fonseca, Nuno A.; He, Yao & Kahles, André [Vis alle 1 459 forfattere av denne artikkelen] (2023). Author Correction: Genomic basis for RNA alterations in cancer (Nature, (2020), 578, 7793, (129-136), 10.1038/s41586-020-1970-0). Nature. ISSN 0028-0836. 614(7948), s. E37–E37. doi: 10.1038/s41586-022-05596-y. Fulltekst i vitenarkiv
• Yakneen, Sergei; Waszak, Sebastian Martin; Aminou, Brice; Bartolome, Javier; Boroevich, Keith A. & Boyce, Rich [Vis alle 1 439 forfattere av denne artikkelen] (2023). Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes (Nature Biotechnology, (2020), 38, 3, (288-292), 10.1038/s41587-019-0360-3). Nature Biotechnology. ISSN 1087-0156. 41(4), s. 577–577. doi: 10.1038/s41587-022-01554-1. Fulltekst i vitenarkiv
• Akdemir, Kadir C.; Le, Victoria T.; Chandran, Sahaana; Li, Yilong; Verhaak, Roel G. & Beroukhim, Rameen [Vis alle 1 405 forfattere av denne artikkelen] (2023). Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (Nature Genetics, (2020), 52, 3, (294-305), 10.1038/s41588-019-0564-y). Nature Genetics. ISSN 1061-4036. 55(6), s. 1079–1079. doi: 10.1038/s41588-023-01318-w. Fulltekst i vitenarkiv
• Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng & Yoon, Christopher J. [Vis alle 1 340 forfattere av denne artikkelen] (2023). Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x). Nature Genetics. ISSN 1061-4036. 55(6), s. 1078–1078. doi: 10.1038/s41588-023-01317-x. Fulltekst i vitenarkiv
• Cortés-Ciriano, Isidro; Lee, Jake June-Koo; Xi, Ruibin; Jain, Dhawal; Jung, Youngsook L. & Yang, Lixing [Vis alle 1 402 forfattere av denne artikkelen] (2023). Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (Nature Genetics, (2020), 52, 3, (331-341), 10.1038/s41588-019-0576-7). Nature Genetics. ISSN 1061-4036. 55(6), s. 1076–1076. doi: 10.1038/s41588-023-01315-z. Fulltekst i vitenarkiv
• Gerstung, Moritz; Jolly, Clemency; Leshchiner, Ignaty; Dentro, Stefan C.; Gonzalez, Santiago & Rosebrock, Daniel [Vis alle 1 440 forfattere av denne artikkelen] (2023). Author Correction: The evolutionary history of 2,658 cancers (Nature, (2020), 578, 7793, (122-128), 10.1038/s41586-019-1907-7). Nature. ISSN 0028-0836. 614(7948), s. E42–E42. doi: 10.1038/s41586-022-05601-4. Fulltekst i vitenarkiv
• Li, Yilong; Roberts, Nicola D.; Wala, Jeremiah A.; Shapira, Ofer; Schumacher, Steven E. & Kumar, Kiran [Vis alle 1 410 forfattere av denne artikkelen] (2023). Author Correction: Patterns of somatic structural variation in human cancer genomes (Nature, (2020), 578, 7793, (112-121), 10.1038/s41586-019-1913-9). Nature. ISSN 0028-0836. 614(7948), s. E38–E38. doi: 10.1038/s41586-022-05597-x. Fulltekst i vitenarkiv
• Alexandrov, Ludmil B.; Kim, Jaegil; Haradhvala, Nicholas J.; Huang, Mi Ni; Ng, Alvin Wei Tian & Wu, Yang [Vis alle 1 383 forfattere av denne artikkelen] (2023). Author Correction: The repertoire of mutational signatures in human cancer (Nature, (2020), 578, 7793, (94-101), 10.1038/s41586-020-1943-3). Nature. ISSN 0028-0836. 614(7948), s. E41–E41. doi: 10.1038/s41586-022-05600-5. Fulltekst i vitenarkiv
• Aaltonen, Lauri A.; Abascal, Federico; Abeshouse, Adam; Aburatani, Hiroyuki; Adams, David J. & Agrawal, Nishant [Vis alle 1 324 forfattere av denne artikkelen] (2023). Author Correction: Pan-cancer analysis of whole genomes (Nature, (2020), 578, 7793, (82-93), 10.1038/s41586-020-1969-6). Nature. ISSN 0028-0836. 614(7948), s. E39–E39. doi: 10.1038/s41586-022-05598-w. Fulltekst i vitenarkiv
• Yuan, Yuan; Ju, Young Seok; Kim, Youngwook; Li, Jun; Wang, Yumeng & Yoon, Christopher J. [Vis alle 1 340 forfattere av denne artikkelen] (2023). Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x). Nature Genetics. ISSN 1061-4036. 55(5), s. 892–892. doi: 10.1038/s41588-020-0629-y. Fulltekst i vitenarkiv
• Rodriguez-Martin, Bernardo; Alvarez, Eva G.; Baez-Ortega, Adrian; Zamora, Jorge; Supek, Fran & Demeulemeester, Jonas [Vis alle 1 445 forfattere av denne artikkelen] (2023). Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (Nature Genetics, (2020), 52, 3, (306-319), 10.1038/s41588-019-0562-0). Nature Genetics. ISSN 1061-4036. 55(6), s. 1080–1080. doi: 10.1038/s41588-023-01319-9. Fulltekst i vitenarkiv
• Tasken, Kjetil; Russnes, Hege Elisabeth Giercksky; Aas, Eline; Bjørge, Line; Blix, Egil Støre & Ahlquist, Terje C. [Vis alle 116 forfattere av denne artikkelen] (2022). A national precision cancer medicine implementation initiative for Norway. Nature Medicine. ISSN 1078-8956. 28(5), s. 885–887. doi: 10.1038/s41591-022-01777-4. Fulltekst i vitenarkiv
• Shuai, Shimin; Abascal, Federico; Amin, Samirkumar B.; Bader, Gary D.; Bandopadhayay, Pratiti & Barenboim, Jonathan [Vis alle 1 455 forfattere av denne artikkelen] (2022). Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower (Nature Communications, (2020), 11, 1, (734), 10.1038/s41467-019-13929-1). Nature Communications. 13(1). doi: 10.1038/s41467-022-32343-8. Fulltekst i vitenarkiv
• Cmero, Marek; Yuan, Ke; Ong, Cheng Soon; Schröder, Jan; Adams, David J. & Anur, Pavana [Vis alle 1 399 forfattere av denne artikkelen] (2022). Author Correction: Inferring structural variant cancer cell fraction (Nature Communications, (2020), 11, 1, (730), 10.1038/s41467-020-14351-8). Nature Communications. 13(1). doi: 10.1038/s41467-022-32338-5. Fulltekst i vitenarkiv
• Zhang, Yiqun; Chen, Fengju; Fonseca, Nuno A.; He, Yao; Fujita, Masashi & Nakagawa, Hidewaki [Vis alle 1 480 forfattere av denne artikkelen] (2022). Author Correction: High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations (Nature Communications, (2020), 11, 1, (736), 10.1038/s41467-019-13885-w). Nature Communications. 13(1). doi: 10.1038/s41467-022-32333-w. Fulltekst i vitenarkiv
• Helland, Åslaug; Russnes, Hege Elisabeth Giercksky; Fagereng, Gro Live; Al-Shibli, Khalid Ibrahim; Andersson, Yvonne & Berg, Thomas [Vis alle 53 forfattere av denne artikkelen] (2022). Correction to: Improving public cancer care by implementing precision medicine in Norway: IMPRESS-Norway (Journal of Translational Medicine, (2022), 20, 1, (225), 10.1186/s12967-022-03432-5). Journal of Translational Medicine. 20(1). doi: 10.1186/s12967-022-03518-0. Fulltekst i vitenarkiv
• Paczkowska, Marta; Barenboim, Jonathan; Sintupisut, Nardnisa; Fox, Natalie S.; Zhu, Helen & Abd-Rabbo, Diala [Vis alle 1 459 forfattere av denne artikkelen] (2022). Author Correction: Integrative pathway enrichment analysis of multivariate omics data (Nature Communications, (2020), 11, 1, (735), 10.1038/s41467-019-13983-9). Nature Communications. 13(1). doi: 10.1038/s41467-022-32342-9. Fulltekst i vitenarkiv
• Helland, Åslaug; Russnes, Hege Elisabeth Giercksky; Fagereng, Gro Live; Al-Shibli, Khalid Ibrahim; Andersson, Yvonne & Berg, Thomas [Vis alle 53 forfattere av denne artikkelen] (2022). Improving public cancer care by implementing precision medicine in Norway: IMPRESS-Norway. Journal of Translational Medicine. 20(1), s. 1–11. doi: 10.1186/s12967-022-03432-5. Fulltekst i vitenarkiv Vis sammendrag

  Background Matching treatment based on tumour molecular characteristics has revolutionized the treatment of some cancers and has given hope to many patients. Although personalized cancer care is an old concept, renewed attention has arisen due to recent advancements in cancer diagnostics including access to high-throughput sequencing of tumour tissue. Targeted therapies interfering with cancer specific pathways have been developed and approved for subgroups of patients. These drugs might just as well be efficient in other diagnostic subgroups, not investigated in pharma-led clinical studies, but their potential use on new indications is never explored due to limited number of patients. Methods In this national, investigator-initiated, prospective, open-label, non-randomized combined basket- and umbrella-trial, patients are enrolled in multiple parallel cohorts. Each cohort is defined by the patient’s tumour type, molecular profile of the tumour, and study drug. Treatment outcome in each cohort is monitored by using a Simon two-stage-like ‘admissible’ monitoring plan to identify evidence of clinical activity. All drugs available in IMPRESS-Norway have regulatory approval and are funded by pharmaceutical companies. Molecular diagnostics are funded by the public health care system.

• Jiao, Wei; Atwal, Gurnit; Polak, Paz; Karlic, Rosa; Cuppen, Edwin & Al-Shahrour, Fatima [Vis alle 1 385 forfattere av denne artikkelen] (2022). Author Correction: A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns (Nature Communications, (2020), 11, 1, (728), 10.1038/s41467-019-13825-8). Nature Communications. 13(1). doi: 10.1038/s41467-022-32329-6. Fulltekst i vitenarkiv
• Reyna, Matthew A.; Haan, David; Paczkowska, Marta; Verbeke, Lieven P. C.; Garcia, Miguel Vazquez & Kahraman, Abdullah [Vis alle 1 453 forfattere av denne artikkelen] (2022). Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes (Nature Communications, (2020), 11, 1, (729), 10.1038/s41467-020-14367-0). Nature Communications. 13(1). doi: 10.1038/s41467-022-32334-9. Fulltekst i vitenarkiv
• Rubanova, Yulia; Shi, Ruian; Harrigan, Caitlin F.; Li, Roujia; Wintersinger, Jeff & Sahin, Nil [Vis alle 1 402 forfattere av denne artikkelen] (2022). Author Correction: Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig (Nature Communications, (2020), 11, 1, (731), 10.1038/s41467-020-14352-7). Nature Communications. 13(1). doi: 10.1038/s41467-022-32336-7. Fulltekst i vitenarkiv
• Bhandari, Vinayak; Li, Constance H.; Bristow, Robert G.; Boutros, Paul C.; Aaltonen, Lauri A. & Abascal, Federico [Vis alle 1 328 forfattere av denne artikkelen] (2022). Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours (Nature Communications, (2020), 11, 1, (737), 10.1038/s41467-019-14052-x). Nature Communications. 13(1). doi: 10.1038/s41467-022-32339-4. Fulltekst i vitenarkiv
• Sieverling, Lina; Hong, Chen; Koser, Sandra D.; Ginsbach, Philip; Kleinheinz, Kortine & Hutter, Barbara [Vis alle 1 413 forfattere av denne artikkelen] (2022). Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Nature Communications, (2020), 11, 1, (733), 10.1038/s41467-019-13824-9). Nature Communications. 13(1). doi: 10.1038/s41467-022-32328-7. Fulltekst i vitenarkiv
• Bailey, Matthew H.; Meyerson, William U.; Dursi, Lewis Jonathan; Wang, Liang-Bo; Dong, Guanlan & Liang, Wen-Wei [Vis alle 1 451 forfattere av denne artikkelen] (2020). Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (Nature Communications, (2020), 11, 1, (4748), 10.1038/s41467-020-18151-y). Nature Communications. 11(1). doi: 10.1038/s41467-020-20128-w. Fulltekst i vitenarkiv
• König, Marton Skog Steinberger; Osnes, Terje; Lobmaier, Ingvild Victoria Koren; Bjerkehagen, Bodil; Bruland, Øyvind & Hall, Kirsten Sundby [Vis alle 7 forfattere av denne artikkelen] (2016). Craniofacial Osteosarcoma: A Single-Institution Experience. Fulltekst i vitenarkiv
• König, Marton Skog Steinberger; Osnes, Terje; Lobmaier, Ingvild Victoria Koren; Bjerkehagen, Bodil; Bruland, Øyvind & Hall, Kirsten Sundby [Vis alle 7 forfattere av denne artikkelen] (2016). Treatment of Craniofacial Osteosarcoma: a Multidisciplinary Approach. Fulltekst i vitenarkiv

Se alle arbeider i NVA