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Myeloproliferative neoplasm that is consistently associated with the BCR-ABL1 fusion gene located in the Philadelphia chromosome; originates in an abnormal bone marrow stem cell. CML has three phases: chronic, accelerated, and the blastic phase or blast crisis.
85% of patients are diagnosed in the chronic, asymptomatic phase. The diagnoses is usually incidental when the patient has a CBC and/or peripheral blood smear. If the results of the WBC are abnormal (elevated) the physician will order a bone marrow aspiration. The bone marrow is examined by chromosome and/or molecular techniques for the Philadelphia chromosome. Confirming the presence of the Philadelphia chromosome is required for a definitive diagnosis of CML. The Philadelphia chromosome is identified in the bone marrow by FISH analysis. The Polymerase chain reaction (PCR) is a very specialized molecular blood test that can detect the BCR-ABL1 gene from a blood sample or bone marrow. CML has three phases: chronic, accelerated, and the blastic phase or blast crisis. The accelerated phase can last weeks to months. In the chronic phase the involvement is usually limited to blood, bone marrow and spleen, although the liver may be infiltrated. During the blastic phase, lymph nodes and tissue may be involved. The blastic phase is a disease progression from the chronic phase. The disease; however, remains the same histology: Chronic myelogenous leukemia. The terminal phase is the last phase and survival is usually only weeks or months.
Chronic phase: Tyrosine kinase inhibitor; high-dose chemotherapy with donor cell transplant; BRM (interferon) with or without chemotherapy. May also have single or multi-agent chemotherapy and splenectomy.
Accelerated phase Donor stem cell transplant; tyrosine kinase inhibitor; BRM (interferon) with or without chemotherapy.
Blast phase: Tyrosine kinase inhibitor; single or multi-drug chemotherapy; donor stem cell transplant.
Definitive Diagnostic Methods
Bone marrow biopsy
FISH analysis on bone marrow
Molecular blood test performed on blood or bone marrow to detect BCR-ABL1 gene
Ph chromosome [del(22q)]
Blood thinners; anti-clotting medications; sometimes aspirin
Differs by phase (chronic, blast accelerated). See abstractor notes