Xp11.2易位/TFE3基因融合相关性肾癌临床分析(附12例)

目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床特征,提高对该病的认识。方法:回顾性分析我院2015年01月至2020年12月术后经病理证实的12例Xp11.2易位/TFE3基因融合相关性肾癌患者的临床资料。结果:临床表现为肉眼血尿2例,腰部疼痛5例,体检发现肾脏占位2例,血尿伴腹痛1例,血尿伴腰痛1例,腹部疼痛1例,病程为5天~8年。术后病理均诊断为Xp11.2易位/TFE3基因融合相关性肾癌;肿瘤直径范围2.0~12.0 cm,镜下见大量透明细胞呈乳头状、腺泡样分布,可伴砂粒体形成;12例免疫组织化学检查均为TFE3阳性,CD10阳性率为91.7%(11/12),Vimentin阳性率为66.7%(8/12),P504S阳性率为66.7%(8/12),EMA、CK7、CK8呈不同程度阳性表达。结论:Xp11.2易位/TFE3基因融合相关性肾癌好发于儿童和青年,临床表现主要为肉眼血尿和腰部疼痛,影像学检查有助于其术前诊断及鉴别诊断,目前临床诊断主要依靠免疫组化检测TFE3表达水平。

Clinical analysis of 12 cases of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

Objective:To explore the clinical characteristics of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion,and to improve the understanding of the disease.Methods:The clinical data of 12 patients with Xp11.2 translocation/TFE3 gene fusion-related renal cell carcinoma confirmed by pathology in our hospital from January 2015 to December 2020 were retrospectively analyzed.Results:The clinical manifestations included 2 cases of gross hematuria,5 cases of lumbar pain,2 cases of kidney occupying,1 case of hematuria with abdominal pain,1 case of hematuria with low lumbar pain,and 1 case of abdominal pain.The course of the disease lasted from 5 days to 8 years.Postoperative pathology was diagnosed as Xp11.2 translocation/TFE3 gene fusion-related renal cell carcinoma.Tumor diameter ranged from 2.0 to 12.0 cm,and a large number of clear cells were seen under the microscope,which were papillary and acinar-like distribution,and may be accompanied by sand granule formation.All cases of immunohistochemical examination were positive TFE3.CD10 positive rate was 91.7% (11/12).Vimentin positive rate was 66.7% (8/12).P504S positive rate was 66.7% (8/12).EMA,CK7,CK8 showed different degrees of positive expression.Conclusion:Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma is more likely to occur in children and young adults.The clinical manifestations are mainly gross hematuria and lumbar pain.Imaging examination is helpful for its preoperative diagnosis and differential diagnosis.The current clinical diagnosis mainly relies on immunohistochemistry to detect TFE3 expression level.