Intratumor heterogeneity and branched evolution revealed by multiregion sequencing.

ABSTRACT:

Background

Intratumor heterogeneity may foster tumor evolution and adaptation and hinder personalized-medicine strategies that depend on results from single tumor-biopsy samples.

Methods

To examine intratumor heterogeneity, we performed exome sequencing, chromosome aberration analysis, and ploidy profiling on multiple spatially separated samples obtained from primary renal carcinomas and associated metastatic sites. We characterized the consequences of intratumor heterogeneity using immunohistochemical analysis, mutation functional analysis, and profiling of messenger RNA expression.

Results

Phylogenetic reconstruction revealed branched evolutionary tumor growth, with 63 to 69% of all somatic mutations not detectable across every tumor region. Intratumor heterogeneity

SUBMITTER: Gerlinger M 

PROVIDER: S-EPMC4878653 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature