神经营养因子酪氨酸激酶（NTRK）融合基因NTRK1、NTRK2和NTRK3在多种实体瘤中作为驱动基因变异出现。然而，在中国实体瘤患者中，NTRK融合的患病率很少有报道。基于对10194名中国实体瘤患者的下一代测序数据分析，我们发现大约有0.4%（40/10194）的中国实体瘤患者具有NTRK融合。NTRK融合最常见于软组织肉瘤（3.0%），尤其是纤维肉瘤亚型（12.7%）。共鉴定出29种NTRK融合模式，其中11种很少有报道。NTRK融合主要与TP53（38%）、CDKN2A（23%）和ACVR2A（18%）共存，而与NTRK扩增（5.0%）和单核苷酸变异（2.5%）共存较少。DNA为基础的NTRK融合测序显示出较高的检出率，优于pan-TRK免疫组织化学（100% vs. 87.5%）。两名NTRK融合患者对拉罗替尼表现出临床反应，支持NTRK融合患者对TRK抑制剂的有效反应。© 2023. 自然出版集团英国。

Neurotrophic tyrosine kinase (NTRK) fusions involving NTRK1, NTRK2, and NTRK3 were found in a broad range of solid tumors as driver gene variants. However, the prevalence of NTRK fusions in Chinese solid tumor patients is rarely reported. Based on the next-generation sequencing data from 10,194 Chinese solid tumor patients, we identified approximately 0.4% (40/10,194) of Chinese solid tumor patients with NTRK fusion. NTRK fusions were most frequently detected in soft tissue sarcoma (3.0%), especially in the fibrosarcoma subtype (12.7%). A total of 29 NTRK fusion patterns were identified, of which 11 were rarely reported. NTRK fusion mostly co-occurred with TP53 (38%), CDKN2A (23%), and ACVR2A (18%) and rarely with NTRK amplification (5.0%) and single nucleotide variants (2.5%). DNA-based NTRK fusion sequencing exhibited a higher detection rate than pan-TRK immunohistochemistry (100% vs. 87.5%). Two patients with NTRK fusions showed clinical responses to larotrectinib, supporting the effective response of NTRK fusion patients to TRK inhibitors.© 2023. Nature Publishing Group UK.