Targeted amplicon sequencing for primary tumors and matched lymph node metastases in patients with extrahepatic cholangiocarcinoma

Toru Yamada, Yoshitsugu Nakanishi, Hideyuki Hayashi, Shigeki Tanishima, Ryo Mori, Kyoko Fujii, Keisuke Okamura, Takahiro Tsuchikawa, Toru Nakamura, Takehiro Noji, Toshimichi Asano, Aya Matsui, Kimitaka Tanaka, Yusuke Watanabe, Yo Kurashima, Yuma Ebihara, Soichi Murakami, Toshiaki Shichinohe, Tomoko Mitsuhashi, Satoshi Hirano

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Lymph node metastasis (LNM) is one of the most adverse prognostic factors in extrahepatic cholangiocarcinoma (EHCC) cases. As next-generation sequencing technology has become more widely available, the genomic profile of biliary tract carcinoma has been clarified. However, whether LNMs have additional genomic alterations in patients with EHCC has not been investigated. Here, we aimed to compare the genomic alterations between primary tumors and matched LNMs in patients with EHCC. Methods: Sixteen patients with node-positive EHCCs were included. Genomic DNA was extracted from tissue samples of primary tumors and matched LNMs. Targeted amplicon sequencing of 160 cancer-related genes was performed. Results: Among the 32 tumor samples from 16 patients, 91 genomic mutations were identified. Genomic mutations were noted in 31 genes, including TP53, MAP3K1, SMAD4, APC, and ARID1A. TP53 mutations were most frequently observed (12/32; 37.5%). Genomic mutation profiles were highly concordant between primary tumors and matched LNMs (13/16; 81.3%), and an additional genomic mutation of CDK12 was observed in only one patient. Conclusion: Genomic mutations were highly concordant between primary tumors and matched LNMs, suggesting that genotyping of archived primary tumor samples may help predict genomic mutations of metastatic tumors in patients with EHCC.

Original languageEnglish
Pages (from-to)1035-1043
Number of pages9
JournalHPB
Volume24
Issue number7
DOIs
Publication statusPublished - 07-2022
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Hepatology
  • Gastroenterology

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