Human BCR-ABL Fusion Gene Mutation

Chronic myelogenousleukemia (CML) is a malignant clonal disease of hematopoietic stem cells. More than 95% of CML patients carry the Philadelphia chromosome (Ph) in their blood cells. Predominant pathogenesis of CML is as follows: The BCR-ABL fusion gene is formed by a translocation between the abl proto-oncogene (Abelson murine leukemia viral oncogene homolog 1) on the long arm of chromosome 9 (9q34) and the breakpoint cluster region (BCR) gene on the long arm of chromosome 22 (22q11) ; the fusion protein encoded by this gene has tyrosine kinase (TK) activity, and activates its downstream signaling pathways (such as RAS, PI3K, and JAK/STAT) to promote cell division and inhibit cell apoptosis, making cells proliferate malignantly, and thereby causing the occurrence of CML . BCR-ABL is one of the important diagnostic indicators of CML. The dynamic change of its transcript level is a reliable indicator for prognostic judgment of leukemia and can be used to predict the recurrence of leukemia after treatment.