Cancers (Apr 2024)

Clinical and Diagnostic Utility of Genomic Profiling for Digestive Cancers: Real-World Evidence from Japan

  • Marin Ishikawa,
  • Kohei Nakamura,
  • Ryutaro Kawano,
  • Hideyuki Hayashi,
  • Tatsuru Ikeda,
  • Makoto Saito,
  • Yo Niida,
  • Jiichiro Sasaki,
  • Hiroyuki Okuda,
  • Satoshi Ishihara,
  • Masatoshi Yamaguchi,
  • Hideaki Shimada,
  • Takeshi Isobe,
  • Yuki Yuza,
  • Akinobu Yoshimura,
  • Hajime Kuroda,
  • Seigo Yukisawa,
  • Takuya Aoki,
  • Kei Takeshita,
  • Shinichi Ueno,
  • Junichi Nakazawa,
  • Yu Sunakawa,
  • Sachio Nohara,
  • Chihiro Okada,
  • Ko Nishimiya,
  • Shigeki Tanishima,
  • Hiroshi Nishihara

DOI
https://doi.org/10.3390/cancers16081504
Journal volume & issue
Vol. 16, no. 8
p. 1504

Abstract

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The usefulness of comprehensive genomic profiling (CGP) in the Japanese healthcare insurance system remains underexplored. Therefore, this large-scale study aimed to determine the usefulness of CGP in diagnosing digestive cancers. Patients with various cancer types recruited between March 2020 and October 2022 underwent the FoundationOne® CDx assay at the Keio PleSSision Group (19 hospitals in Japan). A scoring system was developed to identify potentially actionable genomic alterations of biological significance and actionable genomic alterations. The detection rates for potentially actionable genomic alterations, actionable genomic alterations, and alterations equivalent to companion diagnosis (CDx), as well as the signaling pathways associated with these alterations in each digestive cancer, were analyzed. Among the 1587 patients, 547 had digestive cancer. The detection rates of potentially actionable genomic alterations, actionable genomic alterations, and alterations equivalent to CDx were 99.5%, 62.5%, and 11.5%, respectively. APC, KRAS, and CDKN2A alterations were frequently observed in colorectal, pancreatic, and biliary cancers, respectively. Most digestive cancers, except esophageal cancer, were adenocarcinomas. Thus, the classification flowchart for digestive adenocarcinomas proposed in this study may facilitate precise diagnosis. CGP has clinical and diagnostic utility in digestive cancers.

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