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MiTF家族易位性肾细胞癌10例临床病理分析并文献复习 被引量:7

Microphthalmia associated transcription factor family translocation renal cell carcinomas:a clinicopathological analysis and review of literature
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摘要 目的探讨小眼畸形转录因子(microphthalmia-associated transcription factor,MiTF)家族易位性肾细胞癌的临床病理学特征、诊断及鉴别诊断、治疗及预后。方法回顾性分析10例MiTF家族易位性肾细胞癌的临床病理学特征、免疫表型和FISH检测结果,并复习相关文献。结果10例MiTF家族易位性肾细胞癌包括7例TFE3易位肾细胞癌和3例TFEB易位肾细胞癌。10例患者中女性7例,男性3例;年龄21~66岁,平均42.5岁。眼观:肿瘤切面灰白、灰黄色。镜检:肿瘤细胞边界清楚,呈乳头状、腺泡状、巢状结构排列,核仁可见,胞质透明,部分肿瘤细胞胞质丰富、嗜酸性。TFE3易位肾细胞癌中可见砂粒体,TFEB易位肾细胞癌中可见典型双相形态。免疫表型:10例TFE3、PAX8均阳性,8例CD10阳性,8例vimentin阳性,3例HMB-45和4例Melan A阳性,10例CK7均阴性。FISH检测7例TFE3易位肾细胞癌和3例TFEB易位肾细胞癌均存在分离信号。患者均接受手术切除治疗,随访8例均生存。结论MiTF家族易位性肾细胞癌是一类较为少见的肾细胞癌,FISH是检测该肿瘤的金标准,治疗以手术切除为主,预后尚未明确。 Purpose To investigate the clinicopathological features,diagnosis and differential diagnosis,treatment and prognosis of the microphthalmia associated transcription factor(MiTF)family translocation renal cell carcinomas(RCC).Methods The clinicopathological data,immunohistochemical characteristics and FISH results of ten patients with MiTF family translocation RCC were analyzed,and the literature was reviewed.Results There were 7 cases of TFE3 translocation RCC and 3 cases of TFEB translocation RCC.The age of patients ranged from 21 to 66(average 42.5)years.There were 7 cases of female and 3 cases of male.Macroscopically,most tumors were greyish white or greyish yellow in color on cut section.Microscopically,the tumor cells were well defined and arranged in papillary,acinar and nest-like structures.The nucleoli were visible and the cytoplasm was transparent.Some tumor cells have abundant cytoplasm and eosinophilic.Psammomatous calcifications were identified in TFE3 translocation RCC.TFEB translocation RCC showed a characteristic biphasic histological morphology.Immunohistochemically,all 10 cases were positive for TFE3 and PAX8.MiTF RCC were positive at least focally for CD10(8 of 10 cases),vimentin(8 of 10 cases),HMB-45(3 of 10 cases)and Melan A(4 of 10 cases).All 10 cases were negative for CK7.There were TFE3 separation signals in 7 cases of TFE3 translocation RCC,and TFEB separation signals in 3 cases of TFEB translocation RCC by FISH.All patients underwent surgical resection,and 8 patients were survived.Conclusion MiTF family translocation RCC is a rare tumor,and FISH is the gold standard for the diagnosis of the tumor.At present,surgery is the main treatment of MiTF family translocation RCC,and the prognosis is not clear.
作者 葛绾宇 米娟 伍锦凤 孔昕 张敏 刘大伟 叶庆 GE Wan-yu;MI Juan;WU Jin-feng;KONG Xin;ZHANG Min;LIU Da-wei;YE Qing(Department of Pathology,the First Affiliated Hospital of USTC,Division of Life Sciences and Medicine,University of Science and Technology of China,Hefei 230036,China)
出处 《临床与实验病理学杂志》 CAS CSCD 北大核心 2021年第8期954-959,共6页 Chinese Journal of Clinical and Experimental Pathology
关键词 肾肿瘤 MiTF家族易位性肾细胞癌 TFE3 TFEB 荧光原位杂交 kidney neoplasms MiTF family translocation renal cell carcinomas TFE3 TFEB fluorescence in situ hybridization
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