Parikh Jigarkumar, Coleman Teresa, Messias Nidia, Brown James
Department of Medicine;
Rare Tumors. 2009 Dec 28;1(2):e53. doi: 10.4081/rt.2009.e53.
Xp11.2 translocation renal cell carcinomas (TRCCs) are a rare family of tumors newly recognized by the World Health Organization (WHO) in 2004. These tumors result in the fusion of partner genes to the TFE3 gene located on Xp11.2. They are most common in the pediatric population, but have been recently implicated in adult renal cell carcinoma (RCC) presenting at an early age. TFE3-mediated direct transcriptional upregulation of the Met tyrosine kinase receptor triggers dramatic activation of downstream signaling pathways including the protein kinase B (Akt)/phosphatidylinositol-3 kinase (PI3K) and mammalian target of rapamycin (mTOR) pathways. Temsirolimus is an inhibitor of mammalian target of rapamycin (mTOR) kinase, a component of intracellular signaling pathways involved in the growth and proliferation of malignant cells. Here we present a case of a 22-year old female who has been treated with temsirolimus for her Xp11.2/TFE3 gene fusion RCC.
Xp11.2易位性肾细胞癌（TRCC）是世界卫生组织（WHO）于2004年新确认的一类罕见肿瘤。这些肿瘤导致伙伴基因与位于Xp11.2的TFE3基因融合。它们在儿童人群中最为常见，但最近也与早期出现的成人肾细胞癌（RCC）有关。TFE3介导的Met酪氨酸激酶受体直接转录上调触发了包括蛋白激酶B（Akt）/磷脂酰肌醇-3激酶（PI3K）和雷帕霉素哺乳动物靶蛋白（mTOR）途径在内的下游信号通路的显著激活。替西罗莫司是雷帕霉素哺乳动物靶蛋白（mTOR）激酶的抑制剂，mTOR激酶是参与恶性细胞生长和增殖的细胞内信号通路的一个组成部分。在此，我们报告一例22岁女性，她因Xp11.2/TFE3基因融合的肾细胞癌接受了替西罗莫司治疗。
