title: Diagnostic usefulness of fluorescent cytogenetics in differentiating chromophobe renal cell carcinoma from renal oncocytoma: a validation study combining metaphase and interphase analyses.
abstract: We investigated the usefulness of interphase fluorescence in situ hybridization (FISH) analysis to differentiate between 11 chromophobe renal carcinomas and 12 renal oncocytomas, showing different clinical outcomes, when compared with conventional metaphase cytogenetics by karyotyping. Karyotypically, 3 chromophobe renal cell carcinomas showed losses of chromosomes, 3 were polyploid, 1 was normal, and 4 failed to grow. Of 12 oncocytomas, 5 showed a normal numeric karyotype and 6 additional structural rearrangements. FISH on chromophobe renal cell carcinomas showed a high percentage of cases (10/11 [91%]) with multiple numeric losses among chromosomes 1, 2, 6, 10, and 17; this interphase pattern was observed irrespective of the 3 different metaphase karyotypes. Of 12 oncocytomas, 11 (92%) revealed a normal numeric chromosomal status showing at least 2 chromosomes without aneusomy by interphase FISH. The study demonstrates that indeed FISH performed on formalin-fixed, paraffin-embedded tissue can provide clinically useful information more reliably than karyotyping of most of these tumors.
authors.affiliation: 1Department of Pathology, University of Verona, Verona, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Brunelli
authors.forename: Brett
authors.initials: B
authors.lastname: Delahunt
authors.forename: Stefano
authors.initials: S
authors.lastname: Gobbo
authors.forename: Regina
authors.initials: R
authors.lastname: Tardanico
authors.forename: Albino
authors.initials: A
authors.lastname: Eccher
authors.forename: Samantha
authors.initials: S
authors.lastname: Bersani
authors.forename: Paolo
authors.initials: P
authors.lastname: Cossu-Rocca
authors.forename: Claudia
authors.initials: C
authors.lastname: Parolini
authors.forename: Piera
authors.initials: P
authors.lastname: Balzarini
authors.forename: Fabio
authors.initials: F
authors.lastname: Menestrina
authors.forename: Liang
authors.initials: L
authors.lastname: Cheng
authors.forename: John Nelson
authors.initials: JN
authors.lastname: Eble
authors.forename: Guido
authors.initials: G
authors.lastname: Martignoni
mesh_terms: D018249:Adenoma, Oxyphilic / Q000175:diagnosis* / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000235:genetics; D002869:Chromosome Aberrations; D004273:DNA, Neoplasm / Q000032:analysis; D003937:Diagnosis, Differential; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase / Q000235:genetics; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics; D008677:Metaphase / Q000235:genetics; D046888:Tissue Array Analysis
chemical_list: D004273:DNA, Neoplasm