Xp11.2易位/TFE3基因融合相关性肾细胞癌10例的临床病理特征

Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinoma: A clinicopathological features of 10 cases

目的:探讨Xp11.2易位/TFE3基因融合相关性肾细胞癌(Xp11.2 translocation/TFE3 gene fusion assoc iatedrenalcel lcarc inoma,X p11.2RCC)的临床病理特征。方法:收集和分析10例X p11.2RCC患者的临床病理资料,随访并复习相关文献。结果:10例患者年龄18～76(中位33)岁。瘤体直径3.3～10.0 cm。光镜下肿瘤组织多呈乳头状或假乳头状排列,部分呈腺管状或巢状排列,肿瘤细胞胞质丰富透明或嗜酸性;细胞核深染至空泡状,部分可见清晰核仁;肿瘤间质多为纤细的纤维血管间隔,3例肿瘤组织内见砂砾体。免疫组织化学显示:10例肿瘤组织均表达TFE3,Melan-A, p504S及CK,不同程度表达Vimentin, CD10, RCC, PAX8和EMA,不表达CK7和CD117;9例获得随访,其中1例死亡,1例肺转移,7例均无复发和转移。结论:X p11.2RCC是一种少见的肾癌类型,具有相对特征性的组织学形态和免疫表型,准确诊断对于后续临床治疗至关重要。

Objective:To investigate the clinicopathological features of Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinoma(Xp11.2 RCC).Methods:We collected and analyzed the clinicopathological data of 10 patients with Xp11.2 RCC and to follow up and review the relevant literature.Results:Ten patients aged 18 to 76 years old(median age 33 years old).The maximum diameter of tumors was 3.3–10.0 cm.Microscopically,the tumor tissues were mostly were consisted of papillary or pseudopapillary architecture,partially arranged in a tubular or nested pattern.The tumor cells had abundant clear to slightly eosinophilic cytoplasm,dark stained or vacuolar nucleus with clear nucleoli.The tumor stroma was a fine fibrous vascular septum.Psammoma bodies were visible in 3 cases.Immunohistochemically,10 cases of tumor tissues strongly and diffusely expressed TFE3,Melan-A,p504S and CK,partial positive for Vimentin,CD10,RCC,PAX8 and EMA,negative for CK7 and CD117.The 9 patients were followed up,including 1 death,1 pulmonary metastasis,and 7 patients without recurrence and metastasis.Conclusion:Xp11.2 RCC is a rare type of renal cell carcinoma with relatively characteristic histological and immunophenotype.Accurate diagnosis is crucial for subsequent clinical treatment.