Detection of gene fusions using next-generation sequencing for patients with malignancy in China.

This study aimed to identify fusion partners in Chinese patients with solid tumors. Next-generation sequencing (NGS) analysis was used to detect rearrangement in 45,438 Chinese patients with solid tumors between 2015 and 2020, and the clinical characteristics and genetic features of gene fusion were evaluated. H&E staining of the excised tumor tissues was conducted. Samples with a tumor cell content ≥ 20% were included for subsequent DNA extraction and sequencing analysis. A total of 92 patients with rearrangements were identified using next-generation sequencing, and the most common histological type lung cancer. From the 92 fusion cases, 24 fusion partners had been identified, including 14 novel partners and 10 reported partners. Of these, , , , and were the four most frequently occurring partners. Fourteen novel fusion partners were detected in 16 patients, including , , and . In many patients, the breakpoint was located between exons 32 and 34. This study describes 14 novel fusion partners based on the largest fusion cohort, and the breakpoint was mostly located between exons 32 and 34. Additionally, next-generation sequencing is an optional method for identifying novel fusions.