Acute megakaryoblastic leukaemia with extreme thrombocytosis and p190(bcr/abl)rearrangement

Ann Hematol. 2004 Jun;83(6):381-5. doi: 10.1007/s00277-003-0783-1. Epub 2003 Nov 13.

Abstract

Acute megakaryoblastic leukaemia (AML-M7) is an uncommon disease, composing 0.5-1.2% of newly diagnosed adult acute myeloid leukaemias (AML). It is characterised by higher incidence and complexity of cytogenetic abnormalities. We report a rare case of Philadelphia (Ph) chromosome-positive AML-M7, presenting with extreme thrombocytosis and having a poor outcome. The diagnosis was established on the basis of morphological and flow cytometry data for megakaryoblastic proliferation in the bone marrow. Cytogenetics revealed 47,XX,+8,t(9;22)(q34;q11), and p190(BCR-ABL)-rearrangement was detected. MDR1-gene overexpression was not demonstrated; however, the patient was resistant to therapy and died in 6 months. The reported case contributes to the overt heterogeneity of Ph-positive AMLs, which warrants further investigation and understanding.

Publication types

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

MeSH terms

  • Bone Marrow Cells / cytology
  • Bone Marrow Cells / ultrastructure
  • Chromosomes, Human, Pair 22 / genetics
  • Chromosomes, Human, Pair 9 / genetics*
  • Cytogenetics
  • Female
  • Fusion Proteins, bcr-abl / genetics*
  • Gene Rearrangement
  • Humans
  • K562 Cells
  • Leukemia, Megakaryoblastic, Acute / blood
  • Leukemia, Megakaryoblastic, Acute / complications*
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Middle Aged
  • Philadelphia Chromosome
  • RNA, Messenger / genetics
  • Thrombocytosis / blood
  • Thrombocytosis / etiology*

Substances

  • RNA, Messenger
  • Fusion Proteins, bcr-abl