title: Renal translocation carcinomas: clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literature.
abstract: We report clinicopathologic features of a large series of renal translocation carcinomas from a multicentric study. Diagnosis was performed by cytogenetic examination of fresh material and/or by immunochemistry with antibodies directed against the C-terminal part of transcription factor E3 (TFE3) and native transcription factor EB (TFEB) proteins. Clinical data, follow-up, and histologic features were assessed. Antibodies against CK7, CD10, vimentin, epithelial membrane antigen, AE1-AE3, E-cadherin, alpha-methylacyl-coenzyme A racemase, melan A, and HMB45 were tested on tissue microarrays. Whole-genome microarray expression profiling was performed on 4 tumors. Twenty-nine cases were diagnosed as TFE3 and 2 as TFEB renal translocation carcinomas, including 13 males and 18 females, mean age 24.6 years. Two patients had a previous history of chemotherapy and 1 had a history of renal failure. Mean size of the tumor was 6.9 cm. Thirteen cases were > or = pT3 stage. Twelve cases were N+ or M+. Mean follow-up was 29.5 months. Three patients presented metastases and 5 have died. Mixed papillary and nested patterns with clear and/or eosinophilic cells represented the most consistent histologic appearance, with common foci of calcifications regardless of the type of translocation. Using a 30 mn incubation at room temperature, TFE3 immunostainings were positive in only 82% of our TFE3 translocation carcinomas. Both TFE3 and TFEB renal translocation carcinomas expressed CD10 and alpha-methylacyl-coenzyme A racemase in all cases. An expression of E-cadherin was observed in two-third of cases. Cytokeratins were expressed in less than one-third of cases. Melanocytic markers were expressed at least weakly in all cases except two. Unsupervised clustering on the basis of the gene expression profiling indicated a distinct subgroup of tumors. TRIM 63 glutathione S-transferase A1 and alanyl aminopeptidase are the main differentially expressed genes for this group of tumors. Our results suggest that these differentially expressed genes may serve as novel diagnostic or prognostic markers.
authors.affiliation: HIA Val de Grace, Van Andel Research Institute, Paris, France. phcamparo@yahoo.fr
authors.forename: Philippe
authors.initials: P
authors.lastname: Camparo
authors.forename: Viorel
authors.initials: V
authors.lastname: Vasiliu
authors.forename: Vincent
authors.initials: V
authors.lastname: Molinie
authors.forename: Jerome
authors.initials: J
authors.lastname: Couturier
authors.forename: Karl J
authors.initials: KJ
authors.lastname: Dykema
authors.forename: David
authors.initials: D
authors.lastname: Petillo
authors.forename: Kyle A
authors.initials: KA
authors.lastname: Furge
authors.forename: Eva M
authors.initials: EM
authors.lastname: Comperat
authors.forename: Marick
authors.initials: M
authors.lastname: Lae
authors.forename: Raymonde
authors.initials: R
authors.lastname: Bouvier
authors.forename: Liliane
authors.initials: L
authors.lastname: Boccon-Gibod
authors.forename: Yves
authors.initials: Y
authors.lastname: Denoux
authors.forename: Sophie
authors.initials: S
authors.lastname: Ferlicot
authors.forename: Eric
authors.initials: E
authors.lastname: Forest
authors.forename: Gaelle
authors.initials: G
authors.lastname: Fromont
authors.forename: Marie C
authors.initials: MC
authors.lastname: Hintzy
authors.forename: Myriam
authors.initials: M
authors.lastname: Laghouati
authors.forename: Mathilde
authors.initials: M
authors.lastname: Sibony
authors.forename: Marie L
authors.initials: ML
authors.lastname: Tucker
authors.forename: Nina
authors.initials: N
authors.lastname: Weber
authors.forename: Bin T
authors.initials: BT
authors.lastname: Teh
authors.forename: Annick
authors.initials: A
authors.lastname: Vieillefond
mesh_terms: D000293:Adolescent; D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000032:analysis; D014408:Biomarkers, Tumor / Q000032:analysis; D002292:Carcinoma, Renal Cell / Q000737:chemistry / Q000235:genetics* / Q000473:pathology*; D002648:Child; D020732:Cytogenetic Analysis; D005260:Female; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic; D016678:Genome; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009363:Neoplasm Proteins / Q000032:analysis; D009392:Nephrectomy; D046888:Tissue Array Analysis; D014178:Translocation, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; C069203:TFE3 protein, human; C064972:TFEB protein, human