Newswise — Winner of the Brainlab Neurosurgery Award, Koray Ozduman, MD, presented his research, Analysis of Mutational Processes in 23 Adult Hemispheric Diffuse Gliomas Identifies DNA-Damage Repair Deficiency as a Major Contributor to Gliomagenesis, during the 2018 American Association of Neurological Surgeons (AANS) Annual Scientific Meeting.
This work is important, as it points out an important causative process in the formation of the most common malignant brain tumor type, glioma. Processes responsible for the formation of gliomas are still largely unknown. To gain more insight authors analyzed the signatures of mutational processes that contribute to the total genetic mutation load in adult hemispheric diffuse gliomas (HDG). Researchers examined 23 HDG (Median age 45, range 20-76) and paired blood samples where whole exome sequenced and mutations were identified. Contributing mutational signatures (Based on COSMIC) and their weight were calculated using DeconstructSigs. Mutational signatures were correlated with parameters, including age at presentation, pathology, molecular-subgroup, mutational load, age, anatomical location, phylogenetic compartment and multifocality was investigated.
The study re-confirmed “a process related to aging of DNA” as the most common source of genetic mutations in gliomas, a finding which had been reported before by other studies. Interestingly, this study also identified “deficiency in repair of DNA-damage” as an important contributor in the formation of gliomas. The findings indicate that this is not due to a single, universal genetic-event, but rather it is due to a de-regulation of a network of proteins involved in the repair of DNA-damage. Despite the presence of signatures common to all gliomas and those recurrent in each molecular subset, each individual glioma exhibited a unique blend of mutational signatures. The authors also found that this deficiency can both be inherited or gained sporadically. Finally, they reconfirmed their findings in a much larger cohort of glioma patients reported in the The Cancer Genome Atlas (TCGA) database.
Author Block: Ege Ulgen, MD; Ozge Can, PhD; Cemaliye Akyerli, PhD; M Necmettin Pamir, MD
Disclosure: The author reported no conflicts of interest.
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About the 2018 AANS Annual Scientific Meeting: Attended by neurosurgeons, neurosurgical residents, medical students, neuroscience nurses, clinical specialists, physician assistants, allied health professionals and other medical professionals, the AANS Annual Scientific Meeting is the largest gathering of neurosurgeons in the nation, with an emphasis on the field’s latest research and technological advances. The scientific presentations accepted for the 2018 event will represent cutting-edge examples of the incredible developments taking place within the field of neurosurgery. Find additional information about the 2018 AANS Annual Scientific Meeting and the meeting program here.
Founded in 1931 as the Harvey Cushing Society, the American Association of Neurological Surgeons (AANS) is a scientific and educational association with more than 11,000 members worldwide. The AANS is dedicated to advancing the specialty of neurological surgery in order to provide the highest quality of neurosurgical care to the public. Fellows of the AANS are board-certified by the American Board of Neurological Surgery, the Royal College of Physicians and Surgeons of Canada or the Mexican Council of Neurological Surgery, A.C. Neurosurgery is the medical specialty concerned with the prevention, diagnosis, treatment and rehabilitation of disorders that affect the spinal column, spinal cord, brain, nervous system and peripheral nerves.
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