title: Renal cell carcinoma with smooth muscle stroma lacks chromosome 3p and VHL alterations.
abstract: Renal cell carcinoma with prominent smooth muscle stroma is a rare neoplasm composed of an admixture of epithelial cell with clear cytoplasm arranged in small nest and tubular structures and a stroma composed of smooth muscle. In the epithelial component, loss of chromosome 3p detected by fluorescence in situ hybridization (FISH) has been reported and on this basis these neoplasms have been viewed as variants of clear cell renal cell carcinoma. To test the validity of this classification, we have evaluated the chromosome 3 and VHL status of three of these tumors using FISH, array comparative genomic hybridization, gene sequencing, and methylation-specific multiplex ligation-dependent probe amplification analysis. None of the tumors showed deletion of chromosome 3p, VHL mutation, a significant VHL methylation, or changes in VHL copy number and all three tumors demonstrated a flat profile in the comparative genomic hybridization analysis. We conclude that renal cell carcinoma with smooth muscle stroma should be considered as an entity distinct from clear cell renal cell carcinoma.
authors.affiliation: 1] Department of Pathology and Diagnostics, University of Verona, Verona, Italy [2] Anatomia Patologica, Pederzoli Hospital, Peschiera, Verona, Italy.
authors.forename: Guido
authors.initials: G
authors.lastname: Martignoni
authors.affiliation: Department of Pathology and Diagnostics, University of Verona, Verona, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Brunelli
authors.affiliation: 1] Department of Pathology and Diagnostics, University of Verona, Verona, Italy [2] Anatomia Patologica, Pederzoli Hospital, Peschiera, Verona, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Segala
authors.affiliation: 1] Department of Pathology and Diagnostics, University of Verona, Verona, Italy [2] Anatomia Patologica, Pederzoli Hospital, Peschiera, Verona, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Gobbo
authors.affiliation: Department of Pathology, Hartmann Institute and HUSLab, University of Helsinki, Helsinki, Finland.
authors.forename: Ioana
authors.initials: I
authors.lastname: Borze
authors.affiliation: MRC-Holland, Amsterdam, Netherlands.
authors.forename: Lilit
authors.initials: L
authors.lastname: Atanesyan
authors.affiliation: MRC-Holland, Amsterdam, Netherlands.
authors.forename: Suvi
authors.initials: S
authors.lastname: Savola
authors.affiliation: Department of Histology, Microbiology and Medical Biotechnologies, University of Padua, Padua, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Barzon
authors.affiliation: Department of Histology, Microbiology and Medical Biotechnologies, University of Padua, Padua, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Masi
authors.affiliation: Department of Anatomic Pathology, Spedali Civili, Brescia, Italy.
authors.forename: Regina
authors.initials: R
authors.lastname: Tardanico
authors.affiliation: Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: Shaobo
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: John N
authors.initials: JN
authors.lastname: Eble
authors.affiliation: Department of Pathology and Diagnostics, University of Verona, Verona, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Chilosi
authors.affiliation: Department of Pathology, Hartmann Institute and HUSLab, University of Helsinki, Helsinki, Finland.
authors.forename: Tom
authors.initials: T
authors.lastname: Böhling
authors.affiliation: Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: Liang
authors.initials: L
authors.lastname: Cheng
authors.affiliation: Department of Pathology and Molecular Medicine, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
authors.forename: Brett
authors.initials: B
authors.lastname: Delahunt
authors.affiliation: Department of Pathology, Hartmann Institute and HUSLab, University of Helsinki, Helsinki, Finland.
authors.forename: Sakari
authors.initials: S
authors.lastname: Knuutila
mesh_terms: D000368:Aged; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D002893:Chromosomes, Human, Pair 3; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D009130:Muscle, Smooth / Q000473:pathology*; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human