■NTRK基因融合已在各种肿瘤中被鉴定;一些需要积极治疗,有时需要新的TRK抑制剂(TRKi)。我们的目的是描述一个国家,未选中,回顾性,多中心队列。
■通过RT-qPCR或全转录组测序分析的样品,通过居里研究所的法国肉瘤诊断实验室鉴定患者。
■从2001年到2019年,在2120次分析(3.1%)中鉴定出65个NTRK融合肿瘤:58个通过RNA测序(包括20个在RT-qPCR分析后)和7个仅通过RT-qPCR。在确认的61名患者中,37例患者有婴儿软组织或肾纤维肉瘤(IFS),15个其他间充质(Other-MT)和9个中枢神经系统(CNS)肿瘤。他们涵盖了14种具有可变行为的不同肿瘤类型。总的来说,53例患者接受了手术(3例肢解),38种化疗(20种烷化剂/蒽环类),11放疗,两个“观察策略”和13个接受TRKi。在中位随访61.0个月后[范围,2.5-226.0],10例患者死亡。五年总生存率是,分别,91.9%[95CI,83.5-100.0],IFS的61.1%[95CI,34.2-100.0]和64.8%[95CI,39.3-100.0],Other-MT,和CNS组。
■NTRK融合阳性肿瘤很少见,但通过RNA测序可以改善检测。TRKi可用于诊断中枢神经系统NTRK融合阳性肿瘤,一些IFS,和其他MT。
■不适应。
NTRK gene fusions have been identified in various tumors; some requiring aggressive therapy and sometimes new TRK inhibitors (TRKi). We aimed to describe a national, unselected, retrospective, multicenter cohort.
Patients were identified through the French sarcoma diagnostic laboratory at Institut Curie through samples analyzed by RT-qPCR or whole-transcriptome sequencing.
From 2001 to 2019, 65 NTRK fusion tumors were identified within 2120 analyses (3.1%): 58 by RNA sequencing (including 20 after RT-qPCR analysis) and 7 exclusively by RT-qPCR. Of the 61 patients identified, 37 patients had infantile soft tissue or kidney fibrosarcomas (IFS), 15 other mesenchymal (Other-MT) and nine central nervous system (CNS) tumors. They encompassed 14 different tumor types with variable behaviors. Overall, 53 patients had surgery (3 mutilating), 38 chemotherapy (20 alkylating agents/anthracycline), 11 radiotherapy, two \'observation strategy\' and 13 received TRKi. After a median follow-up of 61.0 months [range, 2.5-226.0], 10 patients died. Five-year overall survival is, respectively, 91.9% [95%CI, 83.5-100.0], 61.1% [95%CI, 34.2-100.0] and 64.8% [95%CI, 39.3-100.0] for IFS, Other-MT, and CNS groups.
NTRK-fusion positive tumors are rare but detection is improved through RNA sequencing. TRKi could be considered at diagnosis for CNS NTRK-fusion positive tumors, some IFS, and Other-MT.
Not adapted.