Digital Public Defence: Synne Torkildsen

MD Synne Torkildsen at Institute of Clinical Medicine will be defending the thesis "Identification of fusion genes and somatic mutations in acute myeloid leukemia using high throughput sequencing" for the degree of PhD (Philosophiae Doctor).

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Photo: Sander Torkildsen-Husvik

The public defence will be held as a video conference over Zoom.

The defence will follow regular procedure as far as possible, hence it will be open to the public and the audience can ask ex auditorio questions when invited to do so.

Click here to participate in the public defence

Download Zoom here

Due to copyright reasons, an electronic copy of the thesis must be ordered from the faculty. In order for the faculty to have time to process the order, it must be received by the faculty no later than 2 days prior to the public defence. Orders received later than 2 days before the defence will not be processed. Inquiries regarding the thesis after the public defence must be addressed to the candidate.

Order a digital copy of the thesis here

Digital Trial Lecture - time and place

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Adjudication committee

  • First opponent: Senior Consultant Mette Klarskov Andersen, Rigshospitalet, Copenhagen, Denmark
  • Second opponent: Professor Gunnar Juliusson, Skåne University, Sweden
  • Third member and chair of the evaluation committee: Professor II Ellen Ruud,
    Institute of Clinical Medicine, University of Oslo

Chair of defence

Professor Emeritus Klaus Beiske, Institute of Clinical Medicine, University of Oslo

Principal supervisor

Ioannis Panagopoulos, Oslo University Hospital

Summary

Acute myeloid leukemia (AML) is a rare hematological cancer, caused by genetic alterations in myeloid progenitor cells. The result is clonal expansion, accumulation of abnormal immature myeloid cells and impaired hematopoiesis. AML is characterized by a variety of genetic aberrations influencing disease phenotype, treatment-response, relapse-risk and survival. Fusion genes, generated by chromosomal rearrangements, are aberrations particularly prevalent in leukemia. The overall aim of this thesis was to further investigate cases that through routine karyotyping were found to have clonal chromosomal alterations suspect of harboring cryptic changes. Analyzes were performed at chromosomal, gene and transcriptome levels. Cytogenetic techniques, molecular methods and next generation technologies (NGS) were used in different combinations, allowing circumvention of limitations specific to each method. Our studies illuminated molecular consequences of five different cytogenetic aberrations, and led to the identification of three novel fusion genes and better characterization of one rare fusion gene. The molecular mechanism behind trisomies remain unclear. Therefore, five AML cases with trisomy 4 as the sole anomaly were characterized further. No definitive conclusion could be drawn, but possible clinical associations were found. However, additional studies involving larger group of patients is required, to enable more quality data. Since the fusion genes described here are novel or rare, it is hard to assess their oncogenic potential and prognostic impact. Possible concurrent mutations must also be taken into consideration for that purpose. All cases included were analyzed for “leukemia related mutations” as part of the diagnostic routine at the time. However, application of more complete molecular characterization through targeted NGS was limited to the cases in paper 5. Hence, some cases may have harbored somatic mutations we were unable to identify due to insufficient molecular technologies. 

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Published Jan. 10, 2022 1:52 PM - Last modified Jan. 14, 2022 2:41 PM