Specific genetic changes of diagnostic importance in chromophobe renal cell carcinomas

Lab Invest. 1997 Feb;76(2):203-8.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Biomarkers, Tumor / genetics*
  • Carcinoma, Renal Cell / diagnosis*
  • Carcinoma, Renal Cell / genetics
  • Chromosome Deletion*
  • Cytogenetics
  • DNA, Neoplasm / analysis
  • DNA, Satellite / analysis
  • Humans
  • Karyotyping
  • Kidney Neoplasms / classification
  • Kidney Neoplasms / diagnosis*
  • Kidney Neoplasms / genetics
  • Microsatellite Repeats / genetics
  • Nucleic Acid Hybridization
  • Polymerase Chain Reaction

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • DNA, Satellite