Genomic diversity and BCL9L mutational status in circulating tumor cells predict overall survival in metastatic colorectal cancer.

ABSTRACT:

Background

Metastatic colorectal cancer (mCRC) remains a major cause of cancer-related mortality, but few noninvasive biomarkers exist to track disease progression or inform treatment strategies. Circulating tumor cells (CTCs) offer a minimally invasive source of tumor material, yet the prognostic significance of their genomic diversity remains unclear.

Methods

We conducted whole-exome sequencing of CTC pools from 29 mCRC patients to characterize their mutational landscape and assess associations with overall survival.

Results

Our analysis revealed substantial variation in mutational burden among patients, with all CTC pools harboring non-silent mutations in key CRC driver genes. Higher genomic diversity in CTC pools was significantly associated with reduced overall s

SUBMITTER: Alves JM 

PROVIDER: S-EPMC12698839 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature