Emergence of chronic myelogenous leukemia in a patient with primary thrombocythemia and absence of BCR/ABL rearrangement

Cancer Genet Cytogenet. 2006 May;167(1):74-7. doi: 10.1016/j.cancergencyto.2005.10.005.

Abstract

A 65-year-old woman presented with clinical features of primary thrombocythemia (PT), and absence of the BCR/ABL fusion gene. She responded to hydroxyurea treatment, although after 1 year she required progressive increases in the dose. Six years later, she maintained a high platelet count despite hydroxyurea at 2 g/day and treatment was changed to anagrelide. After 3 weeks, both platelet and leukocyte counts increased. A karyotype study detected the Philadelphia chromosome in all of the 24 metaphases studied. Fluorescent in situ hybridization (FISH) analysis revealed the BCR/ABL rearrangement. The patient was treated with imatinib mesylate and achieved a normal platelet and leukocyte count in 3 weeks. Patients presenting clinical features of PT expressing the Ph chromosome or the BCR/ABL fusion gene have been well documented but, to our knowledge, this is the first report of evolution from typical PT to chronic myeloid leukemia.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Antineoplastic Agents / therapeutic use
  • Benzamides
  • Blood Platelets / drug effects
  • Bone Marrow Cells / cytology
  • Cells, Cultured
  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 9
  • Chronic Disease
  • Dose-Response Relationship, Drug
  • Female
  • Fibrinolytic Agents / therapeutic use
  • Fusion Proteins, bcr-abl / analysis*
  • Humans
  • Hydroxyurea / therapeutic use
  • Imatinib Mesylate
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / complications*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / diagnosis
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / therapy
  • Leukocytes / drug effects
  • Piperazines / therapeutic use
  • Pyrimidines / therapeutic use
  • Quinazolines / therapeutic use
  • Thrombocythemia, Essential / complications*
  • Thrombocythemia, Essential / diagnosis
  • Thrombocythemia, Essential / drug therapy
  • Time Factors
  • Translocation, Genetic
  • Treatment Outcome

Substances

  • Antineoplastic Agents
  • Benzamides
  • Fibrinolytic Agents
  • Piperazines
  • Pyrimidines
  • Quinazolines
  • Imatinib Mesylate
  • Fusion Proteins, bcr-abl
  • anagrelide
  • Hydroxyurea