Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA.

ABSTRACT:

Background

Targeted therapies (TKI) have improved the prognosis of ALK-rearranged lung cancer (ALK⁺ NSCLC), but clinical courses vary widely. Early identification and molecular characterisation of treatment failure have key importance for subsequent therapies. We performed copy number variation (CNV) profiling and targeted panel sequencing from cell-free DNA (cfDNA) to monitor ALK⁺ NSCLC.

Methods

271 longitudinal plasma DNA samples from 73 patients with TKI-treated metastatic ALK⁺ NSCLC were analysed by capture-based targeted (average coverage 4,100x), and shallow whole genome sequencing (sWGS, 0.5x). Mutations were called using standard algorithms. CNVs were quantified using the trimmed median absolute deviation from copy number neutrality (

SUBMITTER: Dietz S 

PROVIDER: S-EPMC7670098 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature