Emergence and maintenance of actionable genetic drivers at medulloblastoma relapse.

ABSTRACT:

Background

Less than 5% of medulloblastoma (MB) patients survive following failure of contemporary radiation-based therapies. Understanding the molecular drivers of medulloblastoma relapse (rMB) will be essential to improve outcomes. Initial genome-wide investigations have suggested significant genetic divergence of the relapsed disease.

Methods

We undertook large-scale integrated characterization of the molecular features of rMB-molecular subgroup, novel subtypes, copy number variation (CNV), and driver gene mutation. 119 rMBs were assessed in comparison with their paired diagnostic samples (n = 107), alongside an independent reference cohort sampled at diagnosis (n = 282). rMB events were investigated for association with outcome post-relapse in clinically annotated patien

SUBMITTER: Richardson S 

PROVIDER: S-EPMC8730763 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature