103. Formation of a ClinGen Variant Curation Expert Panel (VCEP) dedicated to Oncohistone H3 Variants in Pediatric Gliomas

Mutations in histone H3 (oncohistones) result in widespread epigenetic dysregulation and are increasingly recognized as oncogenic events in many different cancer types. In particular, H3.1/3 K27M and G34R/V oncohistones define a subset of highly aggressive pediatric gliomas arising in the midline ('diffuse midline glioma, H3 K27-altered') and cerebral hemispheres ('diffuse hemispheric glioma, H3 G34-mutant'). Recently, other glioma subtypes with non-infiltrative or low-grade histomorphologies have been identified with H3 K27M mutations and less aggressive clinical courses, some harboring co-occurring driver events characteristic of low-grade gliomas, such as BRAF V600E.

Source: Cancer Genetics and Cytogenetics - November 1, 2022 Category: Genetics & Stem Cells Authors: David Meredith, Jason Saliba, Yassmine Akkari, Wan-Hsin Lin, Jianling Ji, Elizabeth Spiteri, Cam Grisdale, Arpad Danos, Rushil Dua, Erin McMullin, Jeanine Ruggeri, Eldar Dudic, Donald Parsons, Daniel Brat, Sebastian Waszak, Sabine Mueller, Obi L. Griffith Source Type: research