Newswise — Winner of the Brian D. Silber Award, Ganesh Mani Shankar, MD, presented his research, BRAF Alteration Status and the Histone H3F3A Gene K27M Mutation Segregate Spinal Cord Astrocytoma Histology, during the 2016 American Association of Neurological Surgeons (AANS) Annual Scientific Meeting.
Intramedullary spinal cord neoplasms represent two percent to four percent of central nervous system tumors, of which astrocytic gliomas represent 80 percent. Histologic grading can be challenging in spinal cord astrocytomas because of the relatively small samples often obtained during surgery. To address the hypothesis that genomic alterations could segregate spinal cord astrocytoma histologic grades, the authors sequenced cancer-related genes in a cohort of 17 tumors.
Spinal cord astrocytomas from children and adults were obtained as formalin-fixed, paraffin-embedded (FFPE) specimens from Massachusetts General Hospital, the University of Toronto and New York University. Targeted sequencing of 560 cancer-related genes and 39 translocation events was performed on DNA extracted from these specimens. Data was analyzed for somatic nucleotide variants, copy number changes and rearrangement analysis.
The most recurrent findings in Grade I spinal cord astrocytomas were a BRAF-KIAA1549 translocation and BRAF copy number gain. WHO grade II astrocytomas were similarly characterized by alterations involved in the MAPKERK or PI3K pathways, including BRAF amplification. In addition, the authors observed that all four Grade III and IV astrocytomas in the discovery cohort shared the H3F3A K27M mutation. Further, targeted Sanger sequencing of H3F3A was performed in five additional specimens and revealed the K27M mutation in 2/3 spinal Grade IV astrocytomas and 0/2 Grade I astrocytomas.
The findings described here represent the first genomic characterization of spinal cord astrocytomas. In summary, study observations indicate that BRAF alterations and histone H3F3A K27M mutations are grade-related features of spinal cord astrocytomas that should enter routine initial evaluation of spinal cord gliomas and provide a potential foundation for adjuvant therapeutic strategies.
Author Block: Ganesh Mani Shankar, MD; Matthew Meyerson, MD, PhD; Jay Loeffler, MD; Jeffrey Wisoff, MD; Priscilla Brastianos, MD; John Shin, MD; Ann-Christine Duhaime, MD; Michael Taylor, MD, PhD; David Louis, MD; Daniel Cahill, MD, PhD; William Curry, MD (Boston)
Disclosure: The author reported no conflicts of interest.
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About the 2016 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 submitted for the 2015 AANS Annual Scientific Meeting; the scientific presentations accepted for the 2016 event will represent cutting-edge examples of the incredible developments taking place within the field of neurosurgery. Additional information about the 2016 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 10,000 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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