NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes.

ABSTRACT:

Background

NF1 inactivation is associated with sensitivity to MEK inhibitor targeted therapy in low-grade and some high-grade gliomas. NF1 loss may also be a harbinger of exploitable vulnerabilities in IDH-wildtype glioblastoma (GBM). Accurate and consistent detection of NF1 loss, however, is fraught given the large gene size, challenges with complete coverage and variant calling upon sequencing, and mechanisms of mRNA and protein regulation that result in early degradation in the absence of genomic alterations. Here, we seek to perform a composite analysis for NF1 loss accounting for genomic alterations and protein expression via immunohistochemistry. We also characterize the landscape of NF1 alterations in GBM.

Methods

We assembled a single-institution, retrospective cohor

SUBMITTER: Chang M 

PROVIDER: S-EPMC11520828 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature