Please use this identifier to cite or link to this item: http://hdl.handle.net/10201/52384

Title: Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect
Issue Date: 2012
Publisher: F. Hernández y Juan F. Madrid. Universidad de Murcia: Departamento de Biología Celular e Histología
Citation: Histology and histopathology, Vol. 27, nº 2 (2012)
ISSN: 1699-5848
0213-3911
Related subjects: CDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología
Keywords: TFE3
Immunohistochemistry
Abstract: The concept of Xp11.2 renal cell carcinoma (RCC) was recently established as a tumor affecting 15% of RCC patients <45 years. Many patients present with advanced stage with frequent lymph node metastases. Histologically, Xp11.2 RCC is characterized by mixed papillary nested/alveolar growth pattern and tumor cells with clear and/or eosinophilic, voluminous cytoplasm. Neoplastic cells show intense nuclear immunoreactivity to TFE3, while focal immunostaining for melanocytic markers, including melanosome-associated antigen or Melan A in some cases, are also noted. Alpha smooth muscle actin and TFEB are consistently negative. Ultrastructurally, the ASPL-TFE3 RCC variant contains rhomboid crystals in the cytoplasm, similar to that observed in alveolar soft part sarcoma. The fusion of the TFE3 gene with several different genes, including ASPL(17q25), PRCC(1q21), PSF(1q34), NonO (Xq12) and CLTC (17q23) have been identified to date. The behavior of Xp11.2 RCC in children and young adults is considered as indolent even when diagnosed at advanced stage, including lymph node metastasis. However, Xp11.2 RCC in older patients behaves in a more aggressive fashion. Therapy includes nephrectomy with extended lymphadenectomy. There may be a role for new protease inhibitors in advanced inoperable disease. Further research is required to correlate clinical behavior with the expanding genetic spectrum of this tumor, and to establish standard therapy protocols for primary and metastatic lesions
Primary author: Kuroda, Naoto
Mikami, Shuji
Pan, Chin-Chen
Cohen, Ronald J.
Hes, Ondrej
Michal, Michal
Nagashima, Yoji
Tanaka, Yukichi
Inoue, Keiji
Shuin, Taro
Lee, Gang-Hong
URI: http://hdl.handle.net/10201/52384
Document type: info:eu-repo/semantics/article
Number of pages / Extensions: 8
Rights: info:eu-repo/semantics/openAccess
Appears in Collections:Vol.27, nº 2 (2012)

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