A study presented at the American Association of Neurological Surgeons Annual Meeting indicated BRAF alterations and histone H3F3A K27M mutations are grade-related features of spinal cord astrocytomas and should be included in the initial evaluation of spinal cord gliomas as these features could lead to additional therapeutic strategies, according to a press release.
In their Brian D. Silber Award-winning study, Ganesh Mani Shankar, MD, and colleagues obtained formalin-fixed, paraffin-embedded specimens of spinal cord astrocytomas from children and adults from the University of Toronto, New York University and Massachusetts General Hospital. Investigators took DNA extracted from the specimens and performed targeted sequencing on 560 cancer-related genes and 39 translocation events. Shankar and colleagues analyzed the data for somatic nucleotide variants, copy number changes and rearrangement analysis.
According to the release, the study showed that in grade I spinal cord astrocytomas, the most recurrent findings were a BRAF-KIAA1549 translocation and a BRAF copy number gain. Shankar noted WHO grade II astrocytomas were characterized by alternation in the MAPK-ERK or PI3K pathways, which included BRAF amplification.
According to Shankar, all four grade III and IV astrocytomas in the discovery group had the same H3F3A K27M mutation. Additional sequencing of H3F3A in five other specimens showed the mutation in two of three grade IV astrocytomas and in none of the two grade I astrocytomas.
Shankar GM, et al. Paper #823. Presented at: American Association of Neurological Surgeons Annual Meeting; April 30-May 4, 2016; Chicago.
Disclosure: Shankar reports no relevant financial disclosures.