Two different Philadelphia chromosomes in a cell line from an AML-M0 patient

Cancer Genet Cytogenet. 1997 Oct 15;98(2):111-4. doi: 10.1016/s0165-4608(96)00419-0.

Abstract

A second Philadelphia (Ph) chromosome is one of the most common nonrandom secondary chromosome changes in leukemias with 9;22 translocations. It has been suggested, and observed in two studies of masked t(9;22), that the second Ph chromosome is an exact duplication of the entire derivative chromosome 22. In a cytogenetic study of bone marrow cells from an acute myelogenous leukemia patient, a cell line carrying two different Ph chromosomes evidenced by a chromosome 22 centromeric heteromorphism was found. From this observation arose the question whether the second der(22) was a true Ph chromosome or whether it was a deleted chromosome derived from the normal chromosome 22 that did not contain the bcr-abl rearrangement. A fluorescent in situ hybridization (FISH) study with the t(9;22) probe revealed two bcr-abl positive signals on 60 of 100 interphase nuclei. The second Ph could have resulted from a mitotic crossing over; or, analogously to late-appearing Philadelphia chromosomes, it may be derived from a new chromatid translocation between the chromosomes 9 and 22 not involved in the initial t(9;22).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 22
  • Fusion Proteins, bcr-abl / genetics
  • Gene Rearrangement
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myeloid, Acute / genetics*
  • Male

Substances

  • Fusion Proteins, bcr-abl