Newswise — WASHINGTON, D.C. (May 5, 2015) — Winner of the Sanford J. Larson, MD, PhD Award, Chetan Bettegowda, MD, will be presenting his abstract titled Somatic Mutations in SUZ12 in Malignant Peripheral Nerve Sheath Tumors at the 83rd Annual Scientific Meeting of the American Association of Neurological Surgeons (AANS).
Neurofibromatosis 1 is a hereditary syndrome characterized by the development of numerous benign neurofibromas, a small subset of which progress to malignant peripheral nerve sheath tumors (MPNSTs), the genetic basis for malignant transformation, is incompletely understood.
To better understand the genetic basis for MPNSTs, the study performed genome-wide, targeted sequencing on 50 cases. In addition, the study performed targeted sequencing on matched neurofibromas from 11 cases in order to identify genetic factors specific for MPNST development. To test the functional significance of mutations identified in the epigenetic machinery, immunohistochemistry was performed in order to evaluate H3K27 trimethylation.
Sixteen MPNSTs, but none of the neurofibromas tested, were found to have somatic mutations in the chromatin modifying gene SUZ12. In tumors without SUZ12 alterations, researchers identified frequent somatic mutations in other members of the polycomb repressor complex 2 (PRC2), including EED, EZH2 and CHD4. In all cases tested, SUZ12 mutation resulted in abrogation of protein expression and loss of H3K27 trimethylation, a downstream target of SUZ12, suggesting that the alterations were inactivating protein function.
Study results suggest that SUZ12 and other members of the PRC2 complex, which is a central regulator of cellular epigenetic machinery, play a critical role in the transformation of benign neurofibromas into MPNSTs.
Author Block: Ming Zang, PhD; Yuxuan Wang; Kevin McMahon, PhD; Allan J. Belzberg, MD, FAANS; Kaisorn L. Chaichana, MD; Gary L. Gallia, MD, PhD; Ziya L. Gokaslan, MD, FAANS; Jean-Paul Wolinsky, MD, FAANS; Ken Kinzler, PhD; Nickolas Papadopoulos, PhD; Bert Vogelstein, MD
Disclosure: The author reported no conflicts of interest.
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About the 2015 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. More than 1,200 scientific abstracts were presented for review at the 2015 AANS Annual Scientific Meeting, and the scientific presentations given at this year’s event represent cutting-edge examples of the incredible developments taking place within the field of neurosurgery. Additional information about the 2015 AANS Annual Scientific Meeting and the meeting program can be found 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 9,000 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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