Molecular Characterization of Ovarian Metastases from Colorectal Cancer Using Circulating Tumor DNA Analysis

Ovarian metastases from colorectal cancer (CRC) are uncommon but are associated with poor prognosis and therapeutic challenges. These lesions may exhibit discordant responses to systemic therapy, suggesting site-specific biological heterogeneity. However, the molecular characteristics of CRC-associated ovarian metastases remain insufficiently defined. We aimed to characterize the circulating tumor deoxyribonucleic acid (ctDNA) landscape of ovarian metastatic CRC using a plasma-based deep sequencing approach.

Plasma samples from patients with CRC and ovarian metastases were analyzed using cancer personalized profiling by deep sequencing. Pathogenic mutations and copy-number alterations were identified to delineate the genomic features of this metastatic subset.

Pathogenic genomic alterations were detected in the majority of patients. Canonical CRC driver mutations, including TP53, KRAS, and APC, were observed at frequencies comparable to those reported in large-scale genomic datasets such as The Cancer Genome Atlas. In addition, recurrent amplification of growth factor receptor genes, including EGFR, MET, and ERBB2, was identified. Detectable tumor-derived alterations in plasma indicate active ctDNA shedding from ovarian lesions, supporting the feasibility of noninvasive genomic profiling in this setting.

CRC-associated ovarian metastases retain the core genomic architecture of colorectal tumorigenesis while demonstrating recurrent receptor tyrosine kinase amplifications that may reflect adaptive clonal evolution within the ovarian microenvironment. Plasma-based ctDNA profiling provides a feasible approach for molecular characterization of this rare metastatic phenotype and may contribute to improved understanding of site-specific tumor biology.