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, andCDKN2Aalterations 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.
在日本医疗保险体系中，全面基因组分析（CGP）的应用价值尚未得到充分探讨。为此，本研究通过大规模样本分析，旨在明确CGP在消化系统癌症诊断中的实际效用。研究纳入了2020年3月至2022年10月期间招募的各类癌症患者，所有患者均在庆应PleSSision集团（日本19家医院）接受了FoundationOne®CDx检测。研究团队开发了一套评分系统，用于识别具有生物学意义的潜在可操作基因组变异及明确可操作基因组变异。研究重点分析了各类消化系统癌症中潜在可操作基因组变异、明确可操作基因组变异、伴随诊断等效变异的检出率，以及这些变异相关的信号通路。 在1587例患者中，547例为消化系统癌症患者。潜在可操作基因组变异、明确可操作基因组变异及伴随诊断等效变异的检出率分别为99.5%、62.5%和11.5%。其中，结直肠癌常见APC基因变异，胰腺癌多见KRAS基因变异，胆道癌则高频出现CDKN2A基因变异。除食管癌外，大多数消化系统癌症均为腺癌类型。因此，本研究提出的消化系统腺癌分类流程图可能有助于实现精准诊断。综合而言，全面基因组分析在消化系统癌症中具有明确的临床诊断价值。
肿瘤(癌症)患者之家