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TFE3重排肾细胞癌8例临床及分子病理特征分析

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目的 探讨TFE3重排肾细胞癌(TFE3-rRCC)的临床病理学特征、免疫表型、分子遗传学、鉴别诊断及预后分析.方法 回顾性分析上海交通大学医学院附属瑞金医院病理科2021年5月至2022年10月8例TFE3重排肾细胞癌的临床病理学及分子特征并复习相关文献.结果 8例患者中男性3例,女性5例;年龄12~62岁,中位年龄35岁.镜下肿瘤细胞呈乳头状、腺样、实性巢状排列,胞质嗜酸至透明,局灶核仁明显,间质见砂砾体结构.免疫组化标记8例TFE3重排肾细胞癌均阳性表达TFE3,阴性表达CA9、CK7,TFE3分离探针检测结果均阳性.结论 TEE3重排肾细胞癌是肾细胞癌的罕见亚型,其组织学形态多样,利用免疫组化标记及分子检测等辅助方法,可避免漏诊及误诊,引导临床给予正确的治疗方案.
Clinical and molecular pathological features of TFE3-earranged renal cell carcinoma:Analysis of eight cases
Objective To investigate the clinicopathologic features,immunophenotype,molecular genetics,differential di-agnosis and prognosis of TFE3-rearranged renal cell carcinoma(TFE3-rRCC).Methods The clinicopathological and molecular characteristics of 8 cases of TFE3-rearranged renal cell carcinoma in the Department of Pathology,Ruijin Hospi-tal,Shanghai Jiao Tong University School of Medicine from May 2021 to October 2022 were retrospectively analyzed,and relevant literature was reviewed.Results Among the eight patients,three were males and five were females,aged 12-62 years with median 35 years.Under the microscope,the tumor cells were papillary,adenoidal,and solid nest-like,cytoplas-mic eosinophilic to transparent,focal nucleoli were obvious,and the interstitial structure was gravel-like.All 8 cases of TFE3 rearranged renal cell carcinoma were positively expressed TFE3 and negatively expressed CA9 and CK7,and the re-sults of TFE3 separation probe were positive.Conclusion TFEE3-rearranged renal cell carcinoma is a rare subtype of renal cell carcinoma with diverse histological morphologies,and the use of immunohistochemical markers and molecular detection and other auxiliary methods can avoid missed diagnosis and misdiagnosis,and guide the correct clinical treatment plan.

Renal neoplasmaTFE3-rearranged renal cellcarcinomaTFE3FISHDifferential diagnosis

任远、黄述斌、王雪、王朝夫

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池州市人民医院病理科,安徽池州 247000

上海交通大学医学院附属瑞金医院病理科,上海 200001

肾肿瘤 TFE3重排肾细胞癌 TFE3 FISH 鉴别诊断

2024

诊断病理学杂志
北京军区总医院

诊断病理学杂志

CSTPCD
影响因子:0.663
ISSN:1007-8096
年,卷(期):2024.31(9)