摘要
目的探讨Xp11.2易位/TFE3基因融合相关性肾癌(Xp11.2RCC)的临床病理特征、鉴别诊断、治疗及预后。方法对6例Xp11.2RCC的临床资料、病理特点进行分析,对Xp11.2RCC采用免疫组化染色,并用荧光原位杂交法(FISH)检测TFE3融合基因。结果6例Xp11.2RCC中,女性4例,男性2例,年龄19~35岁,主要临床表现为肉眼血尿、腰部不适、腹部包块。镜下示瘤细胞界限清楚,胞质丰富、透亮、淡染,局灶嗜酸性,核呈圆形或卵圆形,核仁明显;瘤细胞排列成特征性的乳头状结构,伴不同比例的巢状、片状、腺泡状结构,可见砂砾体形成。免疫组化显示瘤细胞均弥漫表达TFE3、CD10、PAX8,瘤细胞强弱不等或者不同数量的阳性表达CA9、P504S、CK、Vimentin、RCC,且CD117、HMB45、Melan-A均阴性。FISH检测显示6例Xp11.2RCC均可见TFE3基因易位。结论Xp11.2RCC是一种少见的恶性侵袭性肾细胞癌,形态学上可成乳头状、巢状、腺泡状等排列,故诊断上应与透明细胞RCC、乳头状RCC等肿瘤鉴别,TFE3融合基因检测联合免疫组化有助于明确诊断。
Objective To investigate the clinicopathological features,differential diagnosis,treatment and prognosis of renal carcinoma associated with renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions(Xp11.2.2RCC).Methods The clinical data and pathological characteristics of 6 cases of XP11.2RCC were analyzed.All cases of Xp11.2RCC were analyzed by immunohistochemistry.And TFE3 fusion gene was detected by fluorescence in situ hybridization(FISH).Results Among the 6 cases of Xp11.2RCC,there were 4 female and 2 males,aged from 19 to 35 years old.The main clinical manifestations were gross hematuria,lumbar discomfort and abdominal mass.Under the microscope,it was found that the boundary of the tumor cells was clear,the cytoplasmic contents were rich,transparent and lightly stained,the focal eosinophilia,nuclei were round or oval,and the nucleoli were obvious.The tumor cells were arranged into characteristic papillary structures,with different proportions of nest-like,flake-like and acinar-like structures,the formation of gravel can be seen.Immunohistochemistry showed diffuse expression of TFE3,CD10 and PAX8 in all tumor cells.Tumor cells expressed CA9,P504S,CK,Vimentin and RCC with different strength or in different quantities,but CD117,HMB45 and Melan-A were all negative.FISH detection showed that TFE3 gene translocation was found in all 6 cases of Xp11.2RCC.Conclusion Xp11.2RCC is a rare malignant and invasive renal cell carcinoma,which can be morphologically arranged into papillary,nest-like,and alveolar,etc.Therefore,the diagnosis should be differentiated from clear cell RCC,papillary RCC and other tumors.The detection of TFE3 fusion gene combined with immunohistochemistry is helpful for the diagnosis.
作者
郭晓宁
刘维帅
宫惠琳
GUO Xiaoning;LIU Weishuai;GONG Huilin(Department of Pathology,Yangling Demonstration Zone Hospital,Yangling 712100,China;Department of Pathology,First affiliated Hospital of Xi'an Jiaotong University,Xi'an 710061,China)
出处
《宁夏医科大学学报》
2021年第5期469-473,共5页
Journal of Ningxia Medical University
基金
陕西省国际科技合作与交流计划项目(2014KW21-01)。
