Hotspot mutation panel testing reveals clonal evolution in a study of 265 paired primary and metastatic tumors.

ABSTRACT:

Purpose

We used a clinical next-generation sequencing (NGS) hotspot mutation panel to investigate clonal evolution in paired primary and metastatic tumors.

Experimental design

A total of 265 primary and metastatic tumor pairs were sequenced using a 46-gene cancer mutation panel capable of detecting one or more single-nucleotide variants as well as small insertions/deletions. Mutations were tabulated together with tumor type and percentage, mutational variant frequency, time interval between onset of primary tumor and metastasis, and neoadjuvant therapy status.

Results

Of note, 227 of 265 (85.7%) tumor metastasis pairs showed identical mutation calls. Of the tumor pairs with identical mutation calls, 160 (60.4%) possessed defining somatic mutation signatures and 67 (25

SUBMITTER: Goswami RS 

PROVIDER: S-EPMC5015593 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature