Background/Objectives: The neurotrophic tropomyosin receptor kinase (NTRK) genesNTRK1,NTRK2, andNTRK3encode tyrosine kinase receptors, and their fusion genes are known as the oncogenic driver genes for cancer. This study aimed to compare the diagnostic ability ofNTRKfusion among five types of multi-cancer genome profiling tests (multi-CGP tests) and determine a useful multi-CGP test forNTRKfusion, recorded in the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database in Japan. This study aimed to compare the diagnostic results for NTRK fusions among the five different CGP tests.Methods: A total of 88,688 tumor cases were enrolled in the C-CAT profiling database from 2019 to 2024. The detection frequency ofNTRKfusion genes was compared to the results for five multi-CGP tests: NCC Oncopanel, FoundationOne CDx (F1), FoundationOne Liquid (F1L), GenMineTOP (GMT), and Guardant360.Results:NTRKfusion genes were detected in 175 (0.20%) of the 88,688 total cases. GMT, which is equipped with RNA sequencing function, frequently detectedNTRKfusion genes (20 of 2926 cases; 0.68%) in comparison with the other four multi-CGP tests that do not have RNA sequencing analysis. GMT showed significantly (p< 0.05) higher diagnostic ability forNTRKfusions compared with the other four multi-CGP tests. Especially,NTRK2fusion was significantly (p< 0.001) more highly determined by GMT than it was by the other four multi-CGP tests. The detection rates forFGFR1andFGFR3were significantly higher in GMT than in other multi-CGP tests. In contrast, the detection rates of theALKandRETfusion genes were significantly higher in F1L.Conclusions: GMT, which is equipped with RNA sequencing analysis, might show a useful diagnostic ability forNTRKfusions, especially forNTRK2fusion genes.
背景/目的：神经营养性酪氨酸激酶受体（NTRK）基因NTRK1、NTRK2和NTRK3编码酪氨酸激酶受体，其融合基因被认为是癌症的致癌驱动基因。本研究旨在比较五种多癌种基因组分析检测（多CGP检测）对NTRK融合的诊断能力，并确定一种对NTRK融合具有实用诊断价值的多CGP检测，相关数据来源于日本癌症基因组学和先进治疗中心（C-CAT）数据库。本研究旨在比较五种不同CGP检测对NTRK融合的诊断结果。 方法：2019年至2024年间，共有88,688例肿瘤病例纳入C-CAT分析数据库。将NTRK融合基因的检出频率与五种多CGP检测的结果进行比较，这五种检测包括：NCC Oncopanel、FoundationOne CDx（F1）、FoundationOne Liquid（F1L）、GenMineTOP（GMT）和Guardant360。 结果：在总计88,688例病例中，有175例（0.20%）检测到NTRK融合基因。与其他四种不具备RNA测序分析功能的多CGP检测相比，配备RNA测序功能的GMT更频繁地检测到NTRK融合基因（2926例中有20例；0.68%）。与其他四种多CGP检测相比，GMT对NTRK融合的诊断能力显著更高（p < 0.05）。特别是，GMT对NTRK2融合的检出率显著高于其他四种多CGP检测（p < 0.001）。GMT对FGFR1和FGFR3的检出率也显著高于其他多CGP检测。相比之下，F1L对ALK和RET融合基因的检出率显著更高。 结论：配备RNA测序分析的GMT可能对NTRK融合，尤其是NTRK2融合基因，显示出有用的诊断能力。
肿瘤(癌症)患者之家