title: Translocation renal cell carcinomas in adults: a single-institution experience.
abstract: Translocation renal cell carcinoma is a newly recognized subtype of renal cell carcinoma (RCC) with chromosomal translocations involving TFE3 (Xp11.2) or, less frequently, TFEB (6p21). Xp11 translocation RCC was originally described as a pediatric neoplasm representing 20% to 40% of pediatric RCCs, with a much lower frequency in the adult population. TFEB translocation RCC is very rare, with approximately 10 cases reported in the literature. Here, we describe the clinicopathologic features of adult translocation RCC from a single institution. Using tissue microarray, immunohistochemistry, cytogenetic examination, and fluorescence in situ hybridization, we identified 6 (∼5%) cases of TFE3 translocation RCC and 1 (<1%) case of TFEB translocation RCC in 121 consecutive adult RCC cases between 2001 and 2009. Our results suggest that weak TFE3 staining of a significant proportion of RCC cases may be because of expression of the full-length TFE3 protein rather than the chimeric fusion protein resulting from chromosomal translocation.
authors.affiliation: Mount Sinai School of Medicine, New York, NY 10029, USA. minghaozhong@gmail.com
authors.forename: Minghao
authors.initials: M
authors.lastname: Zhong
authors.forename: Patricia
authors.initials: P
authors.lastname: De Angelo
authors.forename: Lisa
authors.initials: L
authors.lastname: Osborne
authors.forename: Alberto E
authors.initials: AE
authors.lastname: Paniz-Mondolfi
authors.forename: Matthew
authors.initials: M
authors.lastname: Geller
authors.forename: Youfeng
authors.initials: Y
authors.lastname: Yang
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Merino
authors.forename: Carlos
authors.initials: C
authors.lastname: Cordon-Cardo
authors.forename: Dongming
authors.initials: D
authors.lastname: Cai
mesh_terms: D000328:Adult; D000368:Aged; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014408:Biomarkers, Tumor / Q000378:metabolism; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D020732:Cytogenetic Analysis; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020133:Reverse Transcriptase Polymerase Chain Reaction; D046888:Tissue Array Analysis; D014178:Translocation, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D014408:Biomarkers, Tumor; D005819:Genetic Markers; C069203:TFE3 protein, human; C064972:TFEB protein, human