Chronic myeloid leukaemia

Author: Ana Planinc-Peraica, Inga Mandac Rogulj
Abstract:

Chronic myeloid leukaemia (CML) is a chronic myeloproliferative disorder. CML accounts for about 15-20% of all leukaemias in adults, with an annual incidence of 1-2 patients per 100,000 population. At the time of diagnosis, the disease is rarely symptomatic. It is usually suspected from the results of blood tests showing anaemia (normochromic, normocytic), leukocytosis and thrombocytosis and peripheral blood smear showing neutrophilia (with increase in myeloblasts). Absolute basophilia and eosinophilia are commonly observed in patients with CML. Fine needle aspiration and bone marrow biopsy with conventional cytogenetic analysis (karyotype) and fluorescence in situ hybridization (FISH ) are essential techniques for the diagnosis of CML and detection of the Philadelphia chromosome, while polymerase chain reaction (PCR) is used for detection of bcr-abl protein. Bcr-abl may be detected in peripheral blood by qualitative PCR, which is used for screening and identification of the subtype of bcr-abl protein. Quantitative PCR is used to measure bcrabl/ abl value expressed as the international score. Molecular techniques (PCR, RT-PCR) are standard techniques used for diagnosis and monitoring of therapeutic response. Tyrosine kinase inhibitors (TKIs) are standard treatment for CML today. Since the introduction of TKI, the mortality rate of CML patients after the first year of diagnosis has dropped to about 2% and 8-year survival rate increased to more than 80%. 

Key words:
allogeneic transplantation; diagnosis; leukemia, myelogenous, chronic, BCR-ABL positive; protein kinase inhibitors


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