Evaluation of liquid biopsies for detection of emerging mutated genes in metastatic colorectal cancer

Publication date: July 2018
Source:European Journal of Surgical Oncology, Volume 44, Issue 7
Author(s): Hiroyasu Furuki, Takeshi Yamada, Goro Takahashi, Takuma Iwai, Michihiro Koizumi, Seiichi Shinji, Yasuyuki Yokoyama, Kohki Takeda, Nobuhiko Taniai, Eiji Uchida
BackgroundDetection of gene mutations is important for planning molecular targeted therapy. Although most gene mutations are concordant between primary colon cancers and their liver metastases, new mutations can emerge in metastases. The liquid biopsy is a newly developed, gene analytic method to detect mutations in metastatic tumors. In this prospective study, we evaluated the applicability of liquid biopsies in the detection of mutations in primary and metastatic tumors.MethodsWe included 22 patients with liver metastases from colorectal cancer and extracted DNA from primary colorectal tumors, metastatic liver tumors, and peripheral blood (liquid biopsy). Next-generation sequencing (NGS) and digital PCR were performed to detect mutations in these three sample types.ResultsWe found a total of 36 different mutations in samples from primary tumors, liver metastases, and liquid biopsies using NGS. Twenty-eight of these mutations were found in all three types of samples, whereas liquid biopsy did not identify four mutations that had been found in both primary tumors and liver metastases, but did identify four mutations that were found in liver tumors but not in primary tumors. The sensitivity of liquid biopsies for detecting mutations in liver metastases was 64% (23/36) using NGS and 89% (32/36, P = 0.02) using dPCR. The specificities of NGS and dPCR were 100% (23/23) and 100% (32/32), respectively.ConclusionsEmerging mutations, which are not found in primary tumors, can be detected in their metastases and liquid biopsies.



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