论文部分内容阅读
目的探讨 Xp11.2易位/TFE3基因融合相关性肾癌的临床病理特征、免疫表型、鉴别诊断及预后。方法对11例 Xp11.2易位/TFE3基因融合相关性。肾癌进行光镜观察和免疫组织化学研究及随访10～112个月,并复习相关文献。结果 11例肿瘤中女性7例,男性4例。年龄8～26岁,平均16.3岁。肿块直径2.5～6.0 cm。光镜下癌组织呈两种结构,一种为腺管状、乳头状、巢状分布。细胞界限清楚,有大量透明或嗜酸性胞质。泡状染色质、核仁明显,沙砾体多见。另一种结构更加紧密,多见实性巢状结构,癌细胞缺乏大量的胞质,核仁不明显,沙砾体少见。免疫表型:本组11例均 TFE3、CD10、a-甲酰基-CoA 消旋酶(P504s)弥漫表达,细胞广谱角蛋白(CK-pan)、上皮细胞膜抗原(EMA)、波形蛋白仅部分病例表达,所有病例 CK7、肾脏特异性钙黏蛋白(Ksp-cadherin)、CD117阴性表达。结论 Xp11.2易位/TFE3基因融合相关性肾癌是一种少见肿瘤,诊断主要依据患者的年龄、病理学形态和免疫组织化学 TFE3阳性。
Objective To investigate the clinicopathological characteristics, immunophenotype, differential diagnosis and prognosis of Xp11.2 translocation / TFE3 fusion-related renal cell carcinoma. Methods 11 cases of Xp11.2 translocation / TFE3 gene fusion correlation. Renal cancer were observed by light microscopy and immunohistochemistry and follow-up 10 ~ 112 months, and review the relevant literature. Results Of the 11 tumors, 7 were women and 4 were males. Age 8 to 26 years old, average 16.3 years old. Mass diameter 2.5 ~ 6.0 cm. Light microscopic cancer tissue was two structures, one for the glandular tubular, papillary, nested distribution. Clear cell boundaries, a large number of transparent or eosinophilic cytoplasm. Bubble chromatin, obvious nucleolus, gravel more common. Another structure is more compact, more common nested structure, a large number of cancer cells lack of cytoplasm, nucleoli are not obvious, rare gravel. Immunophenotype: The group of 11 cases were diffusely expressed in TFE3, CD10, a-formyl-CoA racemase (P504s), and only a part of the cells were cytoprotective against CK-pan, EMA, Cases were expressed in all cases CK7, renal specific cadherin (Ksp-cadherin), CD117 negative expression. Conclusion Xp11.2 translocation / TFE3 gene fusion-related renal cell carcinoma is a rare tumor, the diagnosis is mainly based on the patient’s age, pathological morphology and immunohistochemistry TFE3-positive.