BCR/ABL fusion gene detected on 9q34 by fluorescence in situ hybridization in an acute leukemia with two BCR/ABL positive clones, one Ph-negative and one Ph-positive

Cancer Genet Cytogenet. 2001 Nov;131(1):37-41. doi: 10.1016/s0165-4608(01)00496-4.

Abstract

We report cytogenetic, fluorescence in situ hybridization (FISH), and molecular analyses in the first reported case of an acute leukemia with two BCR-positive clones: one cell Ph-positive and all others Ph-negative. A BCR/ABL fusion gene on 9q34 was detected only with a BCR/ABL dual color translocation probe. These FISH interphase signals must be confirmed on a metaphase to avoid an erroneous interpretation. This observation appears to indicate a 2-step mechanism for this aberrant fusion gene localization: first, a classical t(9;22), and then the transfer of the fusion gene formed on chromosome 22 to chromosome 9 by a second translocation between the long arms of the derivative chromosomes 9q+ and 22q-, masking the first chromosome exchange.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Chromosomes, Human, Pair 22 / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • Clone Cells / pathology
  • Female
  • Fusion Proteins, bcr-abl / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Middle Aged
  • Philadelphia Chromosome*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Fusion Proteins, bcr-abl