Analysis of Chromosomal Alterations in Urothelial Carcinoma

Methods Mol Biol. 2018:1655:3-17. doi: 10.1007/978-1-4939-7234-0_1.

Abstract

Here, we describe the use of complementary techniques applicable to different types of samples to analyze chromosomal alterations in urothelial carcinoma. By a conventional chromosome analysis on fresh biopsies, it is possible to delineate the status of ploidy and rough chromosomal aberrations. The multi-target fluorescence in situ hybridization (FISH) UroVysion test, for the rapid detection of chromosomal aneusomy of chromosomes 3, 7, and 17 and/or deletion of 9p21 locus, is applicable to urine specimens as well as to formalin-fixed paraffin-embedded (FFPE) specimens and fresh biopsies. Finally, array comparative genomic hybridization (array-CGH) gives the possibility of analyzing the DNA in a single experiment from a biopsy of the tumor but also from FFPE specimens; this technique is able to detect alterations at the genome level not excluding any chromosome.

Keywords: Chromosome aberrations; Comparative Genomic Hybridization (Array-CGH); DNA copy number variations; Fluorescence in situ hybridization (FISH); Formalin-fixed paraffin-embedded (FFPE) specimens; Fresh biopsies; Urine specimens; UroVysion test; Urothelial carcinoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Chromosome Aberrations*
  • Comparative Genomic Hybridization / methods
  • DNA Copy Number Variations
  • Humans
  • Image Processing, Computer-Assisted
  • In Situ Hybridization, Fluorescence / methods
  • Reagent Kits, Diagnostic
  • Urologic Neoplasms / diagnosis*
  • Urologic Neoplasms / genetics*

Substances

  • Reagent Kits, Diagnostic