Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect

Naoto Kuroda, Shuji Mikami, Chin Chen Pan, Ronald J. Cohen, Ondrej Hes, Michal Michal, Yoji Nagashima, Yukichi Tanaka, Keiji Inoue, Taro Shuin, Gang Hong Lee

Research output: Contribution to journalReview article

54 Citations (Scopus)

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 melanosomeassociated 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.

Original languageEnglish
Pages (from-to)133-140
Number of pages8
JournalHistology and Histopathology
Volume27
Issue number2
Publication statusPublished - 2012 Feb 1

Keywords

  • Immunohistochemistry
  • TFE3
  • Xp11.2 RCC

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

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    Kuroda, N., Mikami, S., Pan, C. C., Cohen, R. J., Hes, O., Michal, M., Nagashima, Y., Tanaka, Y., Inoue, K., Shuin, T., & Lee, G. H. (2012). Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect. Histology and Histopathology, 27(2), 133-140.