A Philadelphia-negative chronic myeloid leukemia with a BCR/ABL fusion gene on chromosome 9

Cancer Genet Cytogenet. 1998 Nov;107(1):48-50. doi: 10.1016/s0165-4608(98)00064-8.

Abstract

A 40-year-old man had chronic myeloid leukemia (CML) and an apparently normal karyotype. Fluorescence in situ hybridization with a BCR/ABL1-S probe, which is formatted to display a BCR/ABL fusion signal on chromosome 22, gave a positive fusion signal on a chromosome 9. Therefore this patient has a BCR/ABL fusion gene on chromosome 9. The BCR/ABL1-D probe, formatted to display a fluorescent signal for both the reciprocal products of a 9/22 rearrangement, gave a positive fusion signal on the derivatives 9 and 22. These findings favor either a cryptic reciprocal exchange between BCR and ABL loci or the reversal of a Philadelphia translocation. An insertion of BCR next to ABL is ruled out. The reverse-transcriptase polymerase chain reaction provided molecular evidence that a typical CML chimeric product resulting from a fusion of BCR exon 2 with C-ABL exon II, a2b2, is present.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 9 / genetics*
  • Fusion Proteins, bcr-abl / genetics*
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / genetics*
  • Male

Substances

  • Genetic Markers
  • Fusion Proteins, bcr-abl