A Ph+ acute myeloid leukaemia expressing both CML-type and ALL-type BCR/ABL mRNA transcripts

Leuk Lymphoma. 1994 Jul;14(3-4):341-6. doi: 10.3109/10428199409049688.

Abstract

This report describes a patient presenting with acute myeloid leukaemia (AML-FAB classification M2). Phenotypic markers were positive for cells of the myeloid lineage, but negative for monocyte/macrophage, megakaryocyte, and T-cell lineages. The occasional blast was positive for CALLA. All blasts carried the Philadelphia chromosome (Ph+), with 20% also harbouring a monosomy 7 (a cytogenetic marker for AML). Reverse transcriptase polymerase chain reaction (RT-PCR) analysis revealed the presence of two BCR/Abl mRNA transcripts; b2a2, the CML-type and E1a2, the ALL-type. Immunoglobulin (Ig) gene analysis demonstrated the presence of a small population of cells containing rearranged Ig genes. After a short remission, the patient relapsed. At relapse the leukaemia had undergone a major phenotypic switch from AML to ALL, with blasts bearing B-cell markers. Ig gene analysis confirmed a monoclonal population of B-cells. The Ph+ persisted, but the monosomy 7 had disappeared. The same two BCR/Abl mRNA transcripts were found at relapse as at presentation. To our knowledge, this is the first report of an AML simultaneously expressing BCR/Abl transcripts from both the minor and major BCR. The possible mechanisms of this dual expression are discussed.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Female
  • Fusion Proteins, bcr-abl / genetics*
  • Gene Expression
  • Gene Rearrangement
  • Genes, abl*
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myeloid, Acute / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • RNA Splicing
  • RNA, Messenger / genetics*
  • Transcription, Genetic*

Substances

  • RNA, Messenger
  • Fusion Proteins, bcr-abl