Abstract
AbstractK27M midline gliomas are defined by point mutations within the chromatin modifiers H3 and are represented as a new separate entity in the new version of the WHO classification for tumors of the central nervous system. These tumors arise in midline structures of the brain, the brain stem and the spinal cord. They occur in children and young adults and are usually associated with a bad clinical outcome. We and others previously reported Mitogen-activated protein kinase (MAPK) pathway activation via BRAF or FGFR1 hotspot mutations in single cases of K27M gliomas. In contrast to K27M mutations, MAPK activation is strongly associated with pediatric low-grade astrocytomas, that show a favorable survival. In the context of K27M glioma, the clinical significance of co-occuring BRAF or FGFR1 mutations remains unclear. We screened a cohort of patients with K27M mutated gliomas for BRAF or FGFR1 mutations. So far, we detected three cases with FGFR1 mutations (K656E and N546K) and two cases with BRAF V600E mutations. These cases showed a favorable survival in comparison to other K27M cases in our series and in comparison to previously reported patient cohorts of K27M glioma. Our results shed light on the frequency and clinical impact of MAPK pathway activation in K27M mutated gliomas with implications for targeted therapies and prognosis of patients.
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