Abstract

Molecular Characterization of Circulating Tumor Cells Defines Genetic Signatures for Individualized Cancer Care

Say Li Kong, Research Associate, Genome Institute of Singapore

Existing studies on circulating tumor cells (CTCs) are rather focused on CTC enumeration in advanced metastatic disease patients. CTC genotypes instead of enumeration might reveal important information related to potential drug sensitivity. In this study, we aimed at evaluating the mutational profiles of CTCs in preoperative colorectal cancer patients and compare them with their matched primary tumors. We collected preoperative blood and matched primary tumor samples from 53 colorectal cancer patients. CTCs were isolated using a label-free microfiltration device based on a silicon microsieve. We performed amplicon-based targeted sequencing on a panel of 39 druggable and frequently mutated genes on both CTCs and fresh-frozen tumor samples. We detected primary tumor matching mutations in 60% of the CTC-enriched blood samples. The identification of druggable mutations in CTCs of preoperative colorectal cancer patients could lead to a timely and focused therapeutic interventions for individualized cancer care.