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- Title
Clinical and Diagnostic Utility of Genomic Profiling for Digestive Cancers: Real-World Evidence from Japan.
- Authors
Ishikawa, Marin; Nakamura, Kohei; Kawano, Ryutaro; Hayashi, Hideyuki; Ikeda, Tatsuru; Saito, Makoto; Niida, Yo; Sasaki, Jiichiro; Okuda, Hiroyuki; Ishihara, Satoshi; Yamaguchi, Masatoshi; Shimada, Hideaki; Isobe, Takeshi; Yuza, Yuki; Yoshimura, Akinobu; Kuroda, Hajime; Yukisawa, Seigo; Aoki, Takuya; Takeshita, Kei; Ueno, Shinichi
- Abstract
Simple Summary: The clinical and diagnostic utility of comprehensive genomic profiling (CGP) in Japan has not been thoroughly investigated. To address this gap, this large-scale study aimed to determine the usefulness of CGP in diagnosing digestive cancer. A total of 547 cases of digestive cancers were analyzed using an original scoring system. Through this approach, the characteristic genomic profiles of each digestive cancer type were identified, with the presence or absence of APC, KRAS, and CDKN2A alterations being characteristic of each organ. Based on the patterns of genomic alterations characteristic of each digestive cancer type, we suggested a classification flowchart specifically designed for digestive adenocarcinomas. Our findings highlight not only the clinical utility of CGP but also its diagnostic utility for digestive cancers. 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.
- Subjects
JAPAN; ADENOCARCINOMA; GENOMICS; RESEARCH funding; EARLY detection of cancer; FISHER exact test; DESCRIPTIVE statistics; DNA; WORLD health; GENE expression profiling; HEALTH outcome assessment; DATA analysis software
- Publication
Cancers, 2024, Vol 16, Issue 8, p1504
- ISSN
2072-6694
- Publication type
Article
- DOI
10.3390/cancers16081504