颅内原发NTRK重排的梭形细胞肿瘤临床病理学观察  

Clinicopathological features of intracranial primary NTRK-rearranged spindle cell neoplasm

作　　者：张莎 冉彩虹 宫惠琳[1] 王凯[1] 张娇娇[1] 梁华[1] 张一萌 ZHANG Sha;RAN Cai-hong;GONG Hui-lin;WANG Kai;ZHANG Jiao-jiao;LIANG Hua;ZHANG Yi-meng(Department of Pathology,First Affiliated Hospital of Xi'an Jiaotong University,Xi'an 710061,China;Department Pathology,Ngari Prefecture People's Hospital,Ngari 859099,China)

机构地区：[1]西安交通大学第一附属医院病理科,西安710061 [2]阿里地区人民医院病理科,西藏阿里859099

出　　处：《诊断病理学杂志》2024年第7期619-623,共5页Chinese Journal of Diagnostic Pathology

基　　金：陕西重点研发计划项目(2021KW21-47)。

摘　　要：目的探讨颅内原发NTRK重排的梭形细胞肿瘤(NTRK-RSCN)的临床病理学特征、免疫表型、分子生物学特点、鉴别诊断及预后。方法对1例NTRK-RSCN的临床资料、病理特点及免疫组化标记、分子生物学检测结果进行分析,并复习相关文献。结果肿瘤附着于左顶叶硬脑膜并凸向脑实质内,镜下主要由形态温和的梭形细胞组成,瘤细胞排列成束状、片状或无特征性构象,间质胶原沉积,局部可见血管周玻璃样变。免疫组化染色显示肿瘤细胞弥漫表达Pan-TRK、CD34、S100,不表达GFAP、SOX10、SMA等标记。FISH检测显示肿瘤细胞出现NTRK1不典型小间隙分离信号,RT-PCR检测显示NTRK1基因发生融合突变,二代测序显示肿瘤细胞NTRK1-TPM3基因融合阳性。结论颅内原发NTRK-RSCN极为罕见,预后尚不明确,诊断上应与脑膜瘤、孤立性纤维性肿瘤、胶质瘤等鉴别。Objective To investigate the clinicopathological features,immunophenotype,molecular biological characteristics,differential diagnosis and prognosis of primary intracranial NTRK-rearranged spindle cell tumors(NTRKRSCN).Methods The clinical data,pathological features,immunohistochemical markers and molecular biological detection results of a case of NTRK-RSCN were analyzed,and the relevant literature was reviewed.Results The tumor was attached to the left parietal dura and protruded into the brain parenchyma.Microscopically,the tumor was mainly composed of bland spindle cells arranged in fascicular,sheet-like or patternless patterns,with interstitial collagen deposition and focal perivascular hyalinization.Immunohistochemical staining showed that the tumor cells were diffusely positive for Pan-TRK,CD34 and S100,but negative for GFAP,SOX10,SMA and other markers.FISH analysis showed atypical NTRK1 small gap separation signal in the tumor cells.RT-PCR showed that NTRK1 gene had fusion mutation.NTRK1-TPM3 gene fusion was detected by next generation sequencing.Conclusion Primary intracranial NTRK-RSCN is extremely rare and its prognosis is unclear.It should be differentiated from meningioma,solitary fibrous tumor,glioma and so on.

关 键 词：颅内原发 NTRK重排的梭形细胞肿瘤 临床病理学特征 鉴别诊断 

分 类 号：R739.41[医药卫生—肿瘤]