Ahluwalia Puneet, Nair Balagopal, Kumar Ginil
Department of Urology, Amrita Institute of Medical Sciences, Kochi, Kerala 682041, India.
Case Rep Urol. 2013;2013:810590. doi: 10.1155/2013/810590. Epub 2013 Dec 22.
Introduction. The recently recognized renal cell carcinomas associated with Xp11.2 translocations are rare tumors predominantly reported in children. Chromosome Xp11.2 translocation results in gene fusion related to transcription factor E3 (TFE3) that plays an important role in proliferation and survival. Case Report. Herein, we present two cases of a TFE3 translocation-associated RCC in young female adults, one detected incidentally and the other one presenting with gross hematuria. Tumor is characterized by immunohistochemistry and a literature review with optimal treatment regimen is presented. Discussion. Xp11.2 translocation RCCs in adult patients are associated with advanced stages, large tumors, and extracapsular disease and usually have an aggressive clinical course. Conclusion. In TFE3 RCC, the genetic background may not only contribute to tumorigenesis, but also determine the response to chemotherapy and targeted therapy. Therefore it is necessary to diagnose this tumor entity accurately. Because of the small number of TFE3 gene fusion-related renal tumors described in the literature, the exact biologic behavior and impact of current treatment modalities remain to be uncertain.
引言。最近发现的与Xp11.2易位相关的肾细胞癌是罕见肿瘤，主要见于儿童。染色体Xp11.2易位导致与转录因子E3（TFE3）相关的基因融合，TFE3在细胞增殖和存活中起重要作用。病例报告。在此，我们报告两例年轻成年女性的TFE3易位相关肾细胞癌，一例为偶然发现，另一例表现为肉眼血尿。通过免疫组化对肿瘤进行特征性分析，并对最佳治疗方案进行文献综述。讨论。成年患者的Xp11.2易位肾细胞癌与晚期、大肿瘤和包膜外病变相关，通常具有侵袭性临床病程。结论。在TFE3肾细胞癌中，遗传背景不仅可能促成肿瘤发生，还可能决定对化疗和靶向治疗的反应。因此，准确诊断这种肿瘤实体很有必要。由于文献中描述的与TFE3基因融合相关的肾肿瘤数量较少，目前治疗方式的确切生物学行为和影响仍不确定。
