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 fu...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.展开更多
Cylindroma is a benign skin appendageal tumor arising from pluripotent stem cells in the follicle. Multiple cylindroma typically occurs as a component of Brooke-Spiegler syndrome or as the only skin lesion of familial...Cylindroma is a benign skin appendageal tumor arising from pluripotent stem cells in the follicle. Multiple cylindroma typically occurs as a component of Brooke-Spiegler syndrome or as the only skin lesion of familial cylindromatosis. We herein report an unusual case of multiple cylindroma involving the trunk without any other features of Brooke-Spiegler syndrome and no family history supporting the possibility of familial cylindromatosis. Immunohistochemical features of CYLD and NF-κB, which are involved in the pathogenesis of cylindroma, in the tumors are also presented.展开更多
文摘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.
文摘Cylindroma is a benign skin appendageal tumor arising from pluripotent stem cells in the follicle. Multiple cylindroma typically occurs as a component of Brooke-Spiegler syndrome or as the only skin lesion of familial cylindromatosis. We herein report an unusual case of multiple cylindroma involving the trunk without any other features of Brooke-Spiegler syndrome and no family history supporting the possibility of familial cylindromatosis. Immunohistochemical features of CYLD and NF-κB, which are involved in the pathogenesis of cylindroma, in the tumors are also presented.
