%0 Journal Article
%T Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Case Report with Immunohistochemical and Cytological Features
%A Takuji Tanaka
%A Kuniaki Hirai
%A Fumimasa Etori
%A Masashi Matsuyama
%A Naoki Watanabe
%A Hiromi Kondo
%A Masayoshi Tamaki
%A Tatsuya Yamashita
%A Shiho Yasue
%A Mika Noda
%A Kunihiro Shinoda
%A Hisao Komeda
%J Open Journal of Pathology
%P 19-25
%@ 2164-6783
%D 2016
%I Scientific Research Publishing
%R 10.4236/ojpathology.2016.61004
%X 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.
%K Renal Cell Carcinoma
%K Xp11.2 Translocation
%K TFE3
%K Cytology
%K Immunohistochemistry
%K Immunocytochemistry
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=62937