Analisys of mRNA chimeric gene BCR-ABL P210 (Mbcr) - qualitatively

MRNA analysis of the BCR-ABL P210 chimeric gene (Mbcr) - a qualitative study

Clinical relevance

The BCR-Abl tyrosine kinase exhibits sustained activity, leading to increased proliferation of myeloid stemócells. The resulting fusion gene most often appears on an abnormal chromosome called the Philadelphia chromosome. The formation of a fusion gene in general is not hereditary, but results from the occurrence of a somatic mutation in the bodyós cells after conception.

The Philadelphia chromosome is found in more than 95% of chronic myeloid leukemia. It is also encountered in acute lymphoblastic leukemia (25%–30% in adults, about 6% in children), sometimes róalso in acute myeloid leukemia (in less than 1% of casesóin). Most peopleób with chronic myelogenous leukemia do not initially have any physicalósymptoms. It is usually diagnosed during a baseline blood test when immature white blood cells called myeloblasts (or blasts) accumulate in the blood and bone marrow.

The overgrowth of myeloblastsós impairs the developmentóof other blood cells, leading to anemia. Further typical symptoms include excessive fatigue, fever, weight loss., splenomegaly. The presence of the Philadelphia chromosome or BCR-Abl gene product in a bone marrow smear is necessary to confirm the diagnosis of chronic myelogenous leukemia. The presence of the Philadelphia chromosome is a target for molecular therapies in peopleób with chronic myeloid leukemia.