Author(s)

Takuji Tanaka^1*, Kuniaki Hirai², Fumimasa Etori¹, Masashi Matsuyama¹, Naoki Watanabe¹, Hiromi Kondo³, Masayoshi Tamaki³, Tatsuya Yamashita⁴, Shiho Yasue⁴, Mika Noda⁴, Kunihiro Shinoda⁴, Hisao Komeda³

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

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.

Renal Cell Carcinoma, Xp11.2 Translocation, TFE3, Cytology, Immunohistochemistry, Immunocytochemistry

Tanaka, T. , Hirai, K. , Etori, F. , Matsuyama, M. , Watanabe, N. , Kondo, H. , Tamaki, M. , Yamashita, T. , Yasue, S. , Noda, M. , Shinoda, K. and Komeda, H. (2016) Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Case Report with Immunohistochemical and Cytological Features. Open Journal of Pathology, 6, 19-25. doi: 10.4236/ojpathology.2016.61004.