Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Case Report with Immunohistochemical and Cytological Features  

作　　者：Takuji Tanaka Kuniaki Hirai Fumimasa Etori Masashi Matsuyama Naoki Watanabe Hiromi Kondo Masayoshi Tamaki Tatsuya Yamashita Shiho Yasue Mika Noda Kunihiro Shinoda Hisao Komeda Takuji Tanaka;Kuniaki Hirai;Fumimasa Etori;Masashi Matsuyama;Naoki Watanabe;Hiromi Kondo;Masayoshi Tamaki;Tatsuya Yamashita;Shiho Yasue;Mika Noda;Kunihiro Shinoda;Hisao Komeda(Department of Diagnostic Pathology (DDP) & Research Center of Diagnostic Pathology (RC-DiP), Gifu Municipal Hospital, Gifu, Japan;Department of Radiology, Ehime University Graduate School of Medicine, Ehime, Japan;Department of Urology, Gifu Municipal Hospital, Gifu, Japan;Department of Pediatrics, Gifu Municipal Hospital, Gifu, Japan)

机构地区：[1]Department of Diagnostic Pathology (DDP) & Research Center of Diagnostic Pathology (RC-DiP), Gifu Municipal Hospital, Gifu, Japan [2]Department of Radiology, Ehime University Graduate School of Medicine, Ehime, Japan [3]Department of Urology, Gifu Municipal Hospital, Gifu, Japan [4]Department of Pediatrics, Gifu Municipal Hospital, Gifu, Japan

出　　处：《Open Journal of Pathology》2016年第1期19-25,共7页病理学期刊（英文）

摘　　要：Gene fusions involving two of the MiT subfamily factors, such as TFE3, TFEB, TFC and MiTF, have been identified in renal cell carcinoma (RCC). Xp11.2 translocation RCC is a rare pediatric neoplasm that harbors gene fusions involving TFE3, which plays an important role in cell proliferation and survival. We herein present a case of RCC associated with Xp11.2 translocation/TFE3 gene fusion in a 14-year-old Japanese boy presenting gross hematuria and body weight loss. The tumor was characterized by histopathology, cytology and TFE3-immunohistochemistry/immunocytochemistry. Knowledge of distinctive morphological and immunostaining features of this tumor can help to accurately diagnose this rare subset of translocation associated RCC in routine pathological diagnostic procedures.Gene fusions involving two of the MiT subfamily factors, such as TFE3, TFEB, TFC and MiTF, have been identified in renal cell carcinoma (RCC). Xp11.2 translocation RCC is a rare pediatric neoplasm that harbors gene fusions involving TFE3, which plays an important role in cell proliferation and survival. We herein present a case of RCC associated with Xp11.2 translocation/TFE3 gene fusion in a 14-year-old Japanese boy presenting gross hematuria and body weight loss. The tumor was characterized by histopathology, cytology and TFE3-immunohistochemistry/immunocytochemistry. Knowledge of distinctive morphological and immunostaining features of this tumor can help to accurately diagnose this rare subset of translocation associated RCC in routine pathological diagnostic procedures.

关 键 词：Renal Cell Carcinoma Xp11.2 Translocation TFE3 CYTOLOGY IMMUNOHISTOCHEMISTRY IMMUNOCYTOCHEMISTRY 

分 类 号：R73[医药卫生—肿瘤]