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Key Features

  • CML with translocation of chromosomes 9 and 22 (the Philadelphia chromosome, Ph+) is identical to adult Ph+CML

  • Translocation 9;22 results in the fusion of the BCR gene on chromosome 22 and the ABL gene on chromosome 9

  • The resulting fusion protein is a constitutively active tyrosine kinase that interacts with a variety of effector proteins and allows for deregulated cellular proliferation, decreased adherence of cells to the bone marrow extracellular matrix, and resistance to apoptosis

  • The disease usually progresses within 3 years to an accelerated phase and then to a blast crisis

Clinical Findings

  • Nonspecific complaints similar to those of acute leukemia may be present, including bone pain, fever, night sweats, and fatigue

  • However, patients can also be asymptomatic

  • Physical findings may include fever, pallor, ecchymoses, and hepatosplenomegaly


  • Patients with a total WBC count > 100,000/μL may have symptoms of leukostasis, such as dyspnea, priapism, or neurologic abnormalities

  • Anemia, thrombocytosis, and leukocytosis are frequent laboratory findings

  • The peripheral smear is usually diagnostic, with

    • Characteristic predominance of myeloid cells in all stages of maturation

    • Increased basophils

    • Relatively few blasts


  • Historically, hydroxyurea or busulfan has been used to reduce or eliminate Ph+ cells and hematopoietic stem cell transplantation was the only consistently curative intervention

  • Imatinib mesylate

    • Tyrosine kinase inhibitor

    • Has had dramatic success, with most patients achieving cytogenetic remission

  • Other tyrosine kinase inhibitors: dasatinib, erlotinib, nilotinib, and ponatinib

    • Durability of remission is unclear

    • Accepted upfront therapy

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