Chronic myelogenous leukemia (CML)

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Chronic myelogenous leukemia (CML) is a form of leukemia characterized by the increased and unregulated growth of predominantly myeloid cells in the bone marrow and the accumulation of these cells in the blood. It is a type of myeloproliferative disease associated with a characteristic chromosomal translocation called the Philadelphia chromosome. The bcr-abl fusion protein is the proto-oncogene from the Philadelphia chromosome found in CML. It is a potent tyrosine kinase which stimulates signal transduction and hence mitosis.

CML is now largely treated with tyrosine kinase inhibitors (TKIs), such as imatinib (Gleevec/Glivec), dasatinib, or nilotinib.

Signs and symptoms

  • enlarged spleen causing pain on the left side
  • malaise
  • joint and/or hip pain
  • low-grade fever
  • increased susceptibility to infections
  • anemia
  • thrombocytopenia with easy bruising (although an increased platelet count (thrombocytosis) may also occur in CML)
Diagnosis

  • Peripheral blood (MGG stain): marked leucocytosis with granulocyte left shift typically including mature myeloid cells. Basophils and eosinophils are almost universally increased; this feature may help differentiate CML from a leukemoid reaction.
  •  A small, hypolobated megakaryocyte (center of field) in a bone marrow aspirate, typically of chronic myelogenous leukemia.
  • detecting the Philadelphia chromosome by routine cytogenetics
  • by fluorescent in situ hybridization
  • or by PCR for the bcr-abl fusion gene.


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