EGFR variant heterogeneity in glioblastoma resolved through single-nucleus sequencing.

ABSTRACT:

Unlabelled

Glioblastomas (GBM) with EGFR amplification represent approximately 50% of newly diagnosed cases, and recent studies have revealed frequent coexistence of multiple EGFR aberrations within the same tumor, which has implications for mutation cooperation and treatment resistance. However, bulk tumor sequencing studies cannot resolve the patterns of how the multiple EGFR aberrations coexist with other mutations within single tumor cells. Here, we applied a population-based single-cell whole-genome sequencing methodology to characterize genomic heterogeneity in EGFR-amplified glioblastomas. Our analysis effectively identified clonal events, including a novel translocation of a super enhancer to the TERT promoter, as well as subclonal LOH and multiple EGFR mutational variants

SUBMITTER: Francis JM 

PROVIDER: S-EPMC4125473 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature