title: Specific genetic changes of diagnostic importance in chromophobe renal cell carcinomas.
abstract: The histologic diagnosis of chromophobe renal cell carcinomas is often uncertain because of phenotype overlap among different types of kidney cancers. Recently, in a novel genetic classification of renal cell tumors, a combination of monosomies of chromosomes 1, 2, 3, 6, 10, 13, 17, and 21 have been suggested to have a diagnostic value for this unique type of tumor. Therefore, we have analyzed fresh and paraffin-embedded tissues obtained from 42 chromophobe renal cell carcinomas for allelic losses at the above-mentioned chromosomal regions by employing microsatellite markers. Loss of chromosomes 1, 2, 6, 10, 13, and 17 was detected in between 75% and 95% of tumors, and loss of chromosome 21 was observed in 54% of cases. All but one tumor showed a combination of monosomies at the specific chromosomes. Thus, applying the set of microsatellite markers used in this study, a PCR-based diagnosis of chromophobe renal cell carcinomas could be established within 1 to 2 days. The general applicability of this approach to fresh and paraffin-embedded tissues allows a correct genetic characterization in all cases where a diagnosis based on histopathology remains uncertain.
authors.affiliation: Department of Urology, Ruprecht-Karls-University, Heidelberg, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Bugert
authors.forename: C
authors.initials: C
authors.lastname: Gaul
authors.forename: K
authors.initials: K
authors.lastname: Weber
authors.forename: J
authors.initials: J
authors.lastname: Herbers
authors.forename: M
authors.initials: M
authors.lastname: Akhtar
authors.forename: B
authors.initials: B
authors.lastname: Ljungberg
authors.forename: G
authors.initials: G
authors.lastname: Kovacs
mesh_terms: D000483:Alleles; D014408:Biomarkers, Tumor / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D003582:Cytogenetics; D004273:DNA, Neoplasm / Q000032:analysis; D004276:DNA, Satellite / Q000032:analysis; D006801:Humans; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D004276:DNA, Satellite