Clinical implications of fluorescence in situ hybridization analysis in 13 chronic myeloid leukemia cases: Ph-negative and variant Ph-positive

Cancer Genet Cytogenet. 1999 Oct 15;114(2):100-7. doi: 10.1016/s0165-4608(99)00067-9.

Abstract

Thirteen chronic myeloid leukemia (CML) patients, 10 with variant Philadelphia (Ph) translocations and 3 Ph negative cases, were analyzed by fluorescence in situ hybridization (FISH) with the use of BCR and ABL cosmid probes and a chromosome 22 painting probe. In the variant Ph translocations, the BCR-ABL fusion gene was located on the Ph chromosome; in 1 CML Ph-negative patient, the BCR-ABL fusion gene was located on the Ph chromosome; and, in 2 patients, it was located on chromosome 9. The chromosome 22 painting probe was detected on the third-party chromosome of the variant translocation, and in none of the variant translocations was there any detectable signal on chromosome 9. In CML patients with clonal evolution of a simple Ph, a signal of the chromosome 22 painting probe was detected on the der(9) of the Ph translocation. It was concluded that the variant Ph translocations evolved simultaneously in a three-way rearrangement. The clinical parameters of the 13 patients were similar to those of a large group of CML patients with a simple Ph translocation. It is suggested that, to determine the prognosis of CML patients with a complex karyotype, FISH analysis with a chromosome 22 painting probe be performed.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosome Painting
  • Chromosomes, Human, Pair 22 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Female
  • Fusion Proteins, bcr-abl / genetics
  • Genetic Variation / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / mortality
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / genetics*
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / mortality
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / pathology
  • Male
  • Middle Aged
  • Philadelphia Chromosome*
  • Prognosis

Substances

  • Fusion Proteins, bcr-abl