A variant form of myelodysplastic syndrome with Ph- minor-BCR/ABL transcript

Int J Hematol. 2001 Jul;74(1):58-63. doi: 10.1007/BF02982550.

Abstract

This study concerns a patient with minor (m)-BCR/ABL transcript-positive and Philadelphia (Ph) chromosome-negative myelodysplastic syndrome (MDS). The patient was a 78-year-old man whose condition was diagnosed as refractory anemia with excess of blasts in transformation. Molecular genetic studies, using reverse transcriptase polymerase chain reaction analysis detected m-BCR/ABL messenger RNA. We used spectral karyotyping to analyze metaphase cells but could not detect a Ph chromosome. Fluorescence in situ hybridization, however, revealed fusion signals of BCR and ABL probes on an apparently normal chromosome 22.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Anemia, Refractory, with Excess of Blasts / blood
  • Anemia, Refractory, with Excess of Blasts / classification*
  • Anemia, Refractory, with Excess of Blasts / diagnosis
  • Anemia, Refractory, with Excess of Blasts / genetics
  • Anemia, Refractory, with Excess of Blasts / pathology
  • Bone Marrow / pathology
  • Chromosomes, Human, Pair 17 / genetics
  • Chromosomes, Human, Pair 17 / ultrastructure
  • Chromosomes, Human, Pair 22 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Fatal Outcome
  • Fusion Proteins, bcr-abl / genetics*
  • Humans
  • Immunophenotyping
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • RNA, Messenger / genetics
  • RNA, Messenger / isolation & purification
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic

Substances

  • RNA, Messenger
  • Fusion Proteins, bcr-abl