Genomic alterations and transcriptional phenotypes in circulating free 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), due to the aggressive clinical course of this cancer, which makes obtaining tumor biopsies exceedingly challenging.

Methods

In this study, we analyzed a prospective cohort of 49 plasma samples obtained before, during, and after treatment from 20 patients with recurrent SCLC. We conducted cfDNA low-pass whole genome sequencing (0.1X coverage), comparing

SUBMITTER: Takahashi N 

PROVIDER: S-EPMC11863907 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature