title: Chromosomal gains in the sarcomatoid transformation of chromophobe renal cell carcinoma.
abstract: The hallmark of chromophobe renal cell carcinoma is multiple chromosomal losses from among chromosomes 1, 2, 6, 10 and 17. Chromophobe renal cell carcinoma with distant metastases or sarcomatoid transformation are uncommon and little is known about their chromosomal abnormalities. We collected six sarcomatoid chromophobe renal cell carcinomas and three primary chromophobe renal cell carcinomas with distant metastases. A cytogenetic analysis by fluorescent in situ hybridization on paraffin-embedded tissue was performed using centromeric probes for chromosomes 1, 2, 6, 10 and 17. We found more than one signal in four of six (66%) sarcomatoid chromophobe renal cell carcinomas, in both sarcomatoid and adjacent epithelial components. Both primary chromophobe renal cell carcinomas and matched metastases showed single signals for all chromosomes studied in two cases and no abnormalities in the remaining case. We concluded that: (1) both epithelial and sarcomatoid components of sarcomatoid chromophobe renal cell carcinoma show different genetic abnormalities from those characteristic of chromophobe renal cell carcinoma; (2) sarcomatoid chromophobe renal cell carcinomas frequently have multiple gains (polysomy) of chromosomes 1, 2, 6, 10 and 17; (3) distant metastases show the same genetic patterns, usually chromosomal losses (monosomy), found in the primary tumors.
authors.affiliation: Anatomia Patologica, Dipartimento di Patologia, Università di Verona, Verona, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Brunelli
authors.forename: Stefano
authors.initials: S
authors.lastname: Gobbo
authors.forename: Paolo
authors.initials: P
authors.lastname: Cossu-Rocca
authors.forename: Liang
authors.initials: L
authors.lastname: Cheng
authors.forename: Ondrej
authors.initials: O
authors.lastname: Hes
authors.forename: Brett
authors.initials: B
authors.lastname: Delahunt
authors.forename: Maurizio
authors.initials: M
authors.lastname: Pea
authors.forename: Franco
authors.initials: F
authors.lastname: Bonetti
authors.forename: Maria M
authors.initials: MM
authors.lastname: Mina
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Ficarra
authors.forename: Marco
authors.initials: M
authors.lastname: Chilosi
authors.forename: John N
authors.initials: JN
authors.lastname: Eble
authors.forename: Fabio
authors.initials: F
authors.lastname: Menestrina
authors.forename: Guido
authors.initials: G
authors.lastname: Martignoni
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology*; D002869:Chromosome Aberrations; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology*; D009362:Neoplasm Metastasis / Q000235:genetics*