Multi-Cancer Genome Profiling for Neurotrophic Tropomyosin Receptor Kinase (NTRK) Fusion Genes: Analysis of Profiling Database of 88,688 Tumors.

: The neurotrophic tropomyosin receptor kinase (NTRK) genes , , and encode tyrosine kinase receptors, and their fusion genes are known as the oncogenic driver genes for cancer. This study aimed to compare the diagnostic ability of fusion among five types of multi-cancer genome profiling tests (multi-CGP tests) and determine a useful multi-CGP test for fusion, 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. : A total of 88,688 tumor cases were enrolled in the C-CAT profiling database from 2019 to 2024. The detection frequency of fusion genes was compared to the results for five multi-CGP tests: NCC Oncopanel, FoundationOne CDx (F1), FoundationOne Liquid (F1L), GenMineTOP (GMT), and Guardant360. : fusion genes were detected in 175 (0.20%) of the 88,688 total cases. GMT, which is equipped with RNA sequencing function, frequently detected fusion 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 ( < 0.05) higher diagnostic ability for fusions compared with the other four multi-CGP tests. Especially, fusion was significantly ( < 0.001) more highly determined by GMT than it was by the other four multi-CGP tests. The detection rates for and were significantly higher in GMT than in other multi-CGP tests. In contrast, the detection rates of the and fusion genes were significantly higher in F1L. : GMT, which is equipped with RNA sequencing analysis, might show a useful diagnostic ability for fusions, especially for fusion genes.