Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome
2020
Abstract
Our report adds to the emerging data that driver events in pediatric CPS converge on known hotspot genes such as IDH1. Direct sequencing of IDH1 should be an essential part of the workup for any LFS-associated glioma, and conversely, the identification of IDH1 mutations in diffuse gliomas of childhood and adolescence warrant an extensive workup for CPS.