一种“双击”易位肉瘤——EWSR1-FLI1和MTMR2-NTRK2融合在小圆形蓝细胞肉瘤中共同出现的首次报道

IF 0.1 Q4 PATHOLOGY
A. Vargas, Caroline Kurek, F. Bonar, F. Maclean, M. Qiu, R. Boyle, R. Brookwell, A. Gill
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引用次数: 2

摘要

摘要:我们报告一例51岁男性原发性尤文氏肉瘤局限于软组织,与荧光原位杂交(FISH)显示EWSR1-FLI1基因融合相关。诊断6年后,使用2种Pan-Trk兔单克隆抗体A7H6R(细胞信号传导技术,丹弗斯,马萨诸塞州)和EPR17341 (Abcam,剑桥,马萨诸塞州)对该肿瘤进行NTRK(神经营养受体酪氨酸激酶1-3)的免疫组化。两个克隆均表现为弥漫的、中等到强的细胞质表达,包括核染色。RNA测序显示,在用于EWSR1 FISH检测的同一肿瘤块中,MTMR2-NTRK2(一种新的基因融合)共同出现。虽然NRK2的FISH没有证实基因重排,但发现了一个非典型的信号模式。该病例挑战了NTRK融合与其他致癌驱动因素相互排斥的概念。该患者的临床病程也很不寻常,因为肿瘤呈惰性病程,无复发或转移性疾病的迹象。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A “Double-Hit” Translocation Sarcoma—First Report of the Co-occurrence of EWSR1-FLI1 and MTMR2-NTRK2 Fusion in a Small Round Blue Cell Sarcoma
Abstract We report a case of a 51-year-old man with primary diagnosis of Ewing sarcoma confined to the soft tissue, associated with EWSR1-FLI1 gene fusion demonstrated by fluorescence in situ hybridization (FISH). Six years after the diagnosis, immunohistochemistry for NTRK (neurotrophic receptor tyrosine kinase 1–3) was performed on this tumor using 2 Pan-Trk rabbit monoclonal antibodies, A7H6R (Cell Signaling Technology, Danvers, Mass) and EPR17341 (Abcam, Cambridge, Mass). Both clones showed diffuse moderate to strong cytoplasmic expression including presence of nuclear stain. RNA sequencing demonstrated the co-occurrence of MTMR2-NTRK2, a novel gene fusion, in the same tumor block used for EWSR1 FISH testing. While FISH for NRK2 did not confirm gene rearrangement, an atypical signal pattern was identified. This case challenges the concept that NTRK fusions are mutually exclusive with other oncogenic drivers. The clinical course of this patient has also been unusual as the tumor has followed an indolent course with no evidence of recurrent or metastatic disease.
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