SKY detection of chromosome rearrangements in two cases of tMDS with a complex karyotype

Cancer Genet Cytogenet. 2002 Oct 15;138(2):128-32. doi: 10.1016/s0165-4608(02)00532-0.

Abstract

In this study, we used spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) as complementary techniques for the analysis of two therapy-related secondary myelodysplastic syndrome (t-MDS) cases with complex karyotypes, previously analyzed by G-banding. Different types of SKY's cytogenetic contributions include confirmation of G-banding results, identification of partially characterized rearrangements, identification of marker chromosomes unidentified by G-banding, and detection of cryptic reciprocal translocations. In particular, the ability of SKY to clarify a number of markers led to the comprehension of clonal evolution. The common aberration found in these two t-MDS cases was the fragility of chromosome 5 and monosomy of chromosome 18. We clearly present that the use of SKY combined with conventional G-banding analysis and FISH has assisted in the identification of important chromosomal events that may play a key role in the development of t-MDS.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Chromosome Aberrations* / chemically induced
  • Chromosome Aberrations* / radiation effects
  • Chromosomes, Human / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Middle Aged
  • Myelodysplastic Syndromes / genetics*
  • Neoplasms, Second Primary / genetics*
  • Spectral Karyotyping