Meyer Paul N, Clark Joseph I, Flanigan Robert C, Picken Maria M
Department of Pathology, Loyola University Medical Center, Maywood, IL 60153, USA.
Am J Clin Pathol. 2007 Jul;128(1):70-9. doi: 10.1309/LR5G1VMXPY3G0CUK.
Renal cell carcinomas associated with Xp11.2 translocations ( TFE3 gene fusions) are rare tumors predominantly reported in children. We studied 5 cases of translocation carcinoma in adult patients, 18 years or older (mean age, 32.6 years). Tumors were examined histologically, immunohistochemically, and electron microscopically and correlated with the clinical picture. Most tumors showed solid sheets of clear to eosinophilic cells with rich vasculature and foci of papillary or pseudopapillary architecture. All cases showed strong nuclear positivity for TFE3. Vimentin and CD10 were positive in the cytoplasm. A panel of cytokeratin antibodies, smooth muscle actin, CD45, HMB45, and calretinin were negative. Patients had nonspecific initial complaints and were diagnosed with advanced disease, most with distant metastases. Various treatments met with minimal success. Unlike pediatric patients, the adult patients followed a rapidly terminal course, with a mean survival of 18 months after diagnosis (range, 10-24 months).
与Xp11.2易位（TFE3基因融合）相关的肾细胞癌是罕见肿瘤，主要报道于儿童。我们研究了5例成年患者（18岁及以上，平均年龄32.6岁）的易位癌。对肿瘤进行了组织学、免疫组织化学和电子显微镜检查，并与临床表现相关联。大多数肿瘤表现为实性片状的透明至嗜酸性细胞，血管丰富，有乳头或假乳头结构灶。所有病例TFE3核均呈强阳性。波形蛋白和CD10在细胞质中呈阳性。一组细胞角蛋白抗体、平滑肌肌动蛋白、CD45、HMB45和钙视网膜蛋白均为阴性。患者最初有非特异性主诉，诊断为晚期疾病，多数有远处转移。各种治疗效果甚微。与儿童患者不同，成年患者病情进展迅速，诊断后平均生存18个月（范围10 - 24个月）。
