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Pathology - Chronic myelogenous leukemia
A myeloproliferative neoplasm mostly affecting the granulocytic lineage, consistently related with the BCR-ABL1 fusion gene on the Philadelphia chromosome.
Epidemiology • Incidence ranges from 1 to 2 per 100,000 individuals annually. • The peak age of onset is between 50 and 70 years old.
Aetiology: Unknown. Genetics • Chronic myelogenous leukaemia (CML) is typically characterized by the t(9;22) translocation, which produces the Philadelphia chromosome. • This translocation fuses the BCR gene on chromosome 22 with the ABL1 gene on chromosome 9. • The resulting BCR-ABL1 protein exhibits increased tyrosine kinase activity, resulting in the persistent activation of signal transduction pathways and uncontrolled proliferation of myeloid cells.
Presentation • The majority of patients receive a diagnosis during the chronic phase of the disease, characterized by an elevated white cell count. • Hepatosplenomegaly frequently accompanies the diagnosis.
Peripheral blood • Leukocytosis resulting from elevated neutrophil counts at various maturation phases. • Basophilia and eosinophilia are prevalent. No dysplasia is observed.
Bone marrow • Bone marrow trephines exhibit hypercellularity attributed to elevated quantities of neutrophils and their precursors. • Megakaryocytes are generally diminutive and hypolobated. • Blasts constitute less than 5% of marrow cells throughout the chronic phase.
Prognosis • The outcome has significantly improved following the introduction of the tyrosine kinase inhibitor, imatinib, resulting in 5-year survival rates of 80–90%. • Disease progression is typically indicated by an elevation in circulating blasts to over 10% (accelerated phase) and culminates in acute leukemia when blasts constitute more than 20% of circulating cells.
A myeloproliferative neoplasm mostly affecting the granulocytic lineage, consistently related with the BCR-ABL1 fusion gene on the Philadelphia chromosome.
Epidemiology • Incidence ranges from 1 to 2 per 100,000 individuals annually. • The peak age of onset is between 50 and 70 years old.
Aetiology: Unknown. Genetics • Chronic myelogenous leukaemia (CML) is typically characterized by the t(9;22) translocation, which produces the Philadelphia chromosome. • This translocation fuses the BCR gene on chromosome 22 with the ABL1 gene on chromosome 9. • The resulting BCR-ABL1 protein exhibits increased tyrosine kinase activity, resulting in the persistent activation of signal transduction pathways and uncontrolled proliferation of myeloid cells.
Presentation • The majority of patients receive a diagnosis during the chronic phase of the disease, characterized by an elevated white cell count. • Hepatosplenomegaly frequently accompanies the diagnosis.
Peripheral blood • Leukocytosis resulting from elevated neutrophil counts at various maturation phases. • Basophilia and eosinophilia are prevalent. No dysplasia is observed.
Bone marrow • Bone marrow trephines exhibit hypercellularity attributed to elevated quantities of neutrophils and their precursors. • Megakaryocytes are generally diminutive and hypolobated. • Blasts constitute less than 5% of marrow cells throughout the chronic phase.
Prognosis • The outcome has significantly improved following the introduction of the tyrosine kinase inhibitor, imatinib, resulting in 5-year survival rates of 80–90%. • Disease progression is typically indicated by an elevation in circulating blasts to over 10% (accelerated phase) and culminates in acute leukemia when blasts constitute more than 20% of circulating cells.
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