trk受体
CDKN2A
融合基因
免疫组织化学
医学
癌症研究
桑格测序
内科学
神经营养素
DNA测序
肿瘤科
癌症
基因
生物
受体
遗传学
作者
Yanjun Xu,Xiaoliang Shi,Weifeng Wang,Lin Zhang,Shing‐Hu Cheung,Marion Rudolph,Nicoletta Brega,Xiaowei Dong,Lili Qian,Liwei Wang,Sha‐Sha Yuan,Daniel Shao Weng Tan,Kai Wang
标识
DOI:10.1038/s41698-023-00427-3
摘要
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.
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