【摘要】 目的 探讨NTRK重排梭形细胞肿瘤临床病理特征、免疫表型、分子特征及鉴别诊断。方法 回顾性分析郑州大学第一附属医院病理科诊断的2例NTRK重排梭形细胞肿瘤临床及病理资料，并结合文献进行讨论。结果 2例患者中，1例14岁女性、1例71岁男性，肿瘤分别发生于乳腺及肾上腺。镜下特征：梭形细胞呈束状、席纹状排列，间质见局灶淋巴细胞聚集、玻璃样变性的厚壁血管、鹿角样血管以及瘢痕疙瘩样胶原沉积；高级别病例细胞密度更丰富，细胞异型性明显、核分裂相易见、可见坏死。低级别病例共表达S-100、CD34;高级别病例pan-TRK阳性，不表达CD34、S-100。2例荧光原位杂交检测均检测到NTRK1基因重排。结论 NTRK重排梭形细胞肿瘤罕见，具有广泛的形态学表现，易漏诊、误诊，CD34、S-100及pan-TRK有助于筛选该疾病，分子检测能协助诊断。更多还原

【Abstract】 Objective To explore the clinicopathologic features, immunophenotype, molecular characteristics, and differential diagnosis of NTRK-rearranged spindle cell neoplasms. Methods The clinical and pathologic data of two cases diagnosed at the Department of Pathology of the First Affiliated Hospital of Zhengzhou University, were retrospectively reviewed and discussed in combination with the literature. Results This study involved two patients, a 14-year-old female and a 71-year-old male; the tumors arose in the breast and the adrenal gland, respectively. Microscopically, the spindle cells were arranged in fascicles or a storiform pattern. The stroma showed focal lymphoid aggregates,hyalinized thick-walled vessels,staghorn-like vessels,and keloid-like collagen deposition. In the high-grade case,the cellularity was higher,marked cellular atypia,readily identifiable mitoses,and necrosis were present. The low-grade case co-expressed S-100 and CD34,whereas the high-grade case was positive for pan-TRK and negative for CD34 and S-100. Fluorescence in situ hybridization confirmed NTRK1 rearrangement in both cases. Conclusion NTRK-rearranged spindle cell neoplasms are rare and exhibit broad morphologic spectra,rendering them prone to under-or misdiagnosis. CD34,S-100,and pan-TRK are useful screening markers; definitive diagnosis requires molecular confirmation.更多还原