Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;22;21)(q34;q11;q22)

Cancer Genet Cytogenet. 2000 Jan 15;116(2):166-9. doi: 10.1016/s0165-4608(99)00115-6.

Abstract

A case of chronic myeloid leukemia displaying an uncommon t(21;22)(q22;q11) is reported. For the first time, this translocation has been characterized by fluorescence in situ hybridization (FISH) and the reverse transcriptase polymerase chain reaction (RT-PCR). FISH, with the use of whole-chromosome painting probes and probes specific for the BCR and ABL genes, showed a three-way variant Philadelphia translocation (9;22;21)(q34;q11;q22) with a BCR/ABL fusion residing on the der(22). In addition, RT-PCR demonstrated a b2a3 BCR/ABL fusion transcript. Underlying mechanisms and prognostic implications are discussed.

Publication types

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

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 21*
  • Female
  • Fusion Proteins, bcr-abl / genetics
  • Humans
  • Hydroxyurea / therapeutic use
  • In Situ Hybridization, Fluorescence
  • Interferon-alpha / therapeutic use
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / drug therapy
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Middle Aged
  • Philadelphia Chromosome*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Interferon-alpha
  • Fusion Proteins, bcr-abl
  • Hydroxyurea