Genomic Evolution in a Patient With Lung Adenocarcinoma With a Germline EGFR T790M Mutation.

ABSTRACT:

Introduction

A subset of lung adenocarcinomas (ADs) has been found to have somatic activating mutations in the tyrosine kinase domain of the EGFR gene, associated with response to EGFR tyrosine kinase inhibitor therapy. Rare germline mutations within this domain, including EGFR T790M, have been associated with genetic susceptibility to lung ADs. Using high-throughput sequencing, we elucidate the genomic evolution in tissues from a patient with lung AD carrying a germline EGFR T790M mutation.

Methods

We performed microdissection, targeted panel, and whole-exome sequencing to molecularly characterize multiple foci of atypical adenomatous hyperplasia (AAH), in situ and invasive components of AD, normal lung tissue, and whole blood from the patient. Normal l

SUBMITTER: Makinen N 

PROVIDER: S-EPMC8474413 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature