Variant Philadelphia translocations in chronic myeloid leukaemia can mimic typical blast crisis chromosome abnormalities or classic t(9;22): a report of two cases

Br J Haematol. 2001 May;113(2):439-42. doi: 10.1046/j.1365-2141.2001.02778.x.

Abstract

A range of fluorescent in situ hybridization techniques have been used to reveal hidden variant Philadelphia translocations in two cases of Ph-positive chronic-phase chronic myeloid leukaemia. In one patient, a highly complex variant Ph translocation affecting four chromosomes had resulted in the formation of structures with the appearance of i(17q) and +8. Misinterpretation of these karyotypes has direct clinical relevance. Our findings illustrate that even established cytogenetic abnormalities may contain cryptic abnormalities beyond the resolution of conventional cytogenetic methods.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Chromosome Banding
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 9
  • Diagnosis, Differential
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Metaphase
  • Philadelphia Chromosome*
  • Translocation, Genetic*