Sunday, February 28, 2016

BCR/ABL1 Testing: Introduction, indications, methods and interpretation

Fig. BCR-ABL1 fusion gene (Philadelphia chromosome)
BCR-ABL1 refers to a gene sequence found in an abnormal chromosome 22 of some people with certain forms of leukemia. Unlike most cancers, the cause of chronic myelogenous leukemia (CML) and some other leukemias can be traced to a single, specific genetic abnormality in one chromosome. The presence of the gene sequence known as BCR-ABL1 confirms the diagnosis of CML and a form of acute lymphoblastic lymphoma (ALL). Chronic myelogenous leukemia (CML) is part of a group of diseases called the myeloproliferative disorders, with an estimated 4600 newly diagnosed cases and 850 deaths in 2005. More than 95% of patients with CML have the distinctive Philadelphia chromosome (Ph1) that results from a reciprocal translocation between the long arms of
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