Xp11 translocation renal cell carcinoma

Hillary Ross, Pedram Argani

Research output: Contribution to journalArticle

Abstract

Xp11 translocation renal cell carcinoma (RCC) is a group of neoplasms characterised by translocations involving a breakpoint at Xp11.2. The resulting gene fusions involve the TFE3 transcription factor gene and multiple reported genes, including the same one (ASPL) found in the characteristic gene fusion of alveolar soft part sarcoma. Xp11 translocation RCCs likely comprise a significant proportion of paediatric RCCs. While uncommon on a percentage basis in adults, adult cases may outnumber paediatric cases due to the much higher overall incidence of RCC in the adult population. The only known risk factor for its development is prior exposure to chemotherapy. The most distinctive histological pattern is a neoplasm with both clear cells and papillary architecture, often with abundant psammoma bodies. Immunohistochemistry typically reveals minimal reactivity to cytokeratins, epithelial membrane antigen (EMA) or vimentin. The most sensitive and specific immunohistochemical markers for these neoplasms are TFE3 protein and cathepsin-K. Clinical outcome data are still premature at this time. However, children with regional nodal metastases but without haematogenous spread have a favourable short-term prognosis. Adults often present with aggressive tumours with widespread systemic metastases and these patients have a poor clinical outcome. Regardless, the tumour can metastasise decades after its initial presentation, so long-term follow-up is necessary. A recently reported melanotic neoplasm with overt melanin pigment may represent a new subset of TFE3 related cancers.

Original languageEnglish (US)
Pages (from-to)369-373
Number of pages5
JournalPathology
Volume42
Issue number4
DOIs
StatePublished - Jun 2010

Fingerprint

Renal Cell Carcinoma
Neoplasms
Gene Fusion
Neoplasm Proteins
Alveolar Soft Part Sarcoma
Cathepsin K
Pediatrics
Neoplasm Metastasis
Mucin-1
Melanins
Vimentin
Keratins
Genes
Transcription Factors
Immunohistochemistry
Drug Therapy
Incidence
Population

Keywords

  • Chromosome translocation
  • Renal cell carcinoma
  • TFE3

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Xp11 translocation renal cell carcinoma. / Ross, Hillary; Argani, Pedram.

In: Pathology, Vol. 42, No. 4, 06.2010, p. 369-373.

Research output: Contribution to journalArticle

Ross, Hillary ; Argani, Pedram. / Xp11 translocation renal cell carcinoma. In: Pathology. 2010 ; Vol. 42, No. 4. pp. 369-373.
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