Genomic alterations and transcriptional phenotypes in circulating tumor DNA and matched metastatic tumor.

ABSTRACT:

Background

Profiling circulating cell-free DNA (cfDNA) has become a fundamental practice in cancer medicine, but the effectiveness of cfDNA at elucidating tumor-derived molecular features has not been systematically compared to standard single-lesion tumor biopsies in prospective cohorts of patients. The use of plasma instead of tissue to guide therapy is particularly attractive for patients with small cell lung cancer (SCLC), a cancer whose aggressive clinical course making it exceedingly challenging to obtain tumor biopsies.

Methods

Here, a prospective cohort of 49 plasma samples obtained before, during, and after treatment from 20 patients with recurrent SCLC, we study cfDNA low pass whole genome (0.1X coverage) and exome (130X) sequencing in comparison with time-point ma

SUBMITTER: Takahashi N 

PROVIDER: S-EPMC11185519 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature