Horie Kengo, Kikuchi Mina, Miwa Kosei, Minamidate Yuzuru, Yokoi Shigeaki, Nakano Masahiro, Deguchi Takashi, Ehara Hidetoshi, Asano Nami, Hirose Yoshinobu
The Department of Urology, Graduate School of Medicine, Gifu University.
Hinyokika Kiyo. 2011 Mar;57(3):129-33.
Xp11.2/TFE3 translocation renal cell carcinoma (RCC), a recently classified distinct subtype, is a rare tumor that usually affects children and adolescents. The morphology and biological behavior are not widely recognized, Xp11.2 translocation RCC is suggestive of early metastases despite the small tumor size. The definitive diagnosis requires the evidence of several different reciprocal translocations involving the TFE3 gene located on chromosome Xp11.2. Here, we present a case of Xp11.2 translocation RCC in an 18-yearold male. He was referred to our hospital because of a right renal tumor with macroscopic hematuria and right flank colic. The radiographic evaluation including magnetic resonance imaging (MRI) suggested it to be a typical papillary renal cell carcinoma or benign renal tumor. He underwent laparoscopic nephrectomy against the repeat symptom in spite of small tumor (3.5 cm in diameter). The immunohistochemical study revealed nuclear staining for TFE3 protein in the cancer cells. The urologic and radiologic outcomes were satisfactory after more than 1 year of follow-up.
Xp11.2/TFE3易位性肾细胞癌（RCC）是一种最近分类的独特亚型，是一种罕见肿瘤，通常影响儿童和青少年。其形态和生物学行为尚未得到广泛认识，尽管肿瘤体积小，但Xp11.2易位性RCC提示早期转移。明确诊断需要有涉及位于Xp11.2染色体上的TFE3基因的几种不同相互易位的证据。在此，我们报告一例18岁男性的Xp11.2易位性RCC。他因右肾肿瘤伴肉眼血尿和右侧腰痛而转诊至我院。包括磁共振成像（MRI）在内的影像学评估提示为典型的乳头状肾细胞癌或良性肾肿瘤。尽管肿瘤较小（直径3.5 cm），但因症状反复，他接受了腹腔镜肾切除术。免疫组织化学研究显示癌细胞中TFE3蛋白呈核染色。经过1年多的随访，泌尿外科和影像学结果均令人满意。
