A case report of adult spindle cell sarcoma with NTRK3-C22orf34 gene fusion
10.3760/cma.j.cn121113-20231211-00381
- VernacularTitle:NTRK3-C22orf34基因融合的成人梭形细胞肉瘤一例报告
- Author:
Jiaxin LI
1
;
Ling REN
;
Xiang ZHANG
;
Gang ZHAO
;
Yue ZHU
;
Xi YANG
;
Yue WU
;
Qin ZHANG
Author Information
1. 天津大学泰达医院病理科，天津 300457
- Keywords:
Soft tissue neoplasms;
Gene fusion;
Mutation;
Case reports
- From:
Chinese Journal of Orthopaedics
2024;44(12):833-836
- CountryChina
- Language:Chinese
-
Abstract:
A case of adult spindle cell sarcoma with NTRK3-C22orf34 gene fusion is reported. The patient, a 35-year-old-male, developed lateral swelling of the right thigh without obvious inducement 7 months before admission and was not accompa-nied by limited movement. The patient was diagnosed with adult spindle cell sarcoma with NTRK3-C22orf34 gene fusion based on the medical history, imaging findings, histomorphology, immunohistochemistry and molecular phenotype. The patients underwent tumor resection without drug-targeted therapy and followed up for 8 months after tumor resection and survived without tumor. In recent years, the number of adult spindle cell sarcomas with neurotrophic tyrosine kinase receptor 3 (NTRK3) gene fusions have been increasing year by year, and most of them are difficult to diagnose based on HE sections due to the varied morphology and small number of these tumors. With the wide application of high-throughput sequencing in soft tissue tumors, the difficulty of diagnosis of spindle cell tumors with the NTRK fusion gene has decreased. High-throughput sequencing of the patient showed that NTRK3-C22orf34 (mutation abundance 5%) gene fusion combined with BRCA1 (mutation abundance 15%) rearrangement and deletion of CDKN2A and TP53 genes were found to be of definite or potential clinical significance. The morphologic spectrum of NTRK fusion spindle cell tumors, especially sarcomas, is still evolving. Treatment of NTRK fusion gene spindle cell tumors is based on surgical resection in combination with tropomyosin receptor kinase (TRK) inhibitors. The emergence of secondary or acquired resistance is primarily associated with point mutations associated with the structural domain of the kinase, and mutations may reduce the efficacy of TRK inhibitors.
