TITLE:
Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Case Report with Immunohistochemical and Cytological Features
AUTHORS:
Takuji Tanaka, Kuniaki Hirai, Fumimasa Etori, Masashi Matsuyama, Naoki Watanabe, Hiromi Kondo, Masayoshi Tamaki, Tatsuya Yamashita, Shiho Yasue, Mika Noda, Kunihiro Shinoda, Hisao Komeda
KEYWORDS:
Renal Cell Carcinoma, Xp11.2 Translocation, TFE3, Cytology, Immunohistochemistry, Immunocytochemistry
JOURNAL NAME:
Open Journal of Pathology,
Vol.6 No.1,
January
22,
2016
ABSTRACT: 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.