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