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BCR-ABL

The translocation between BCR-ABL1 or Philadelphia chromosome translocation is a genetic alteration typically present in the majority of patients with Chronic Myeloid Leukemia (CML) and some patients with Acute Lymphoblastic Leukemia (ALL).

The fusion of the BCR genes, located on chromosome 22, and ABL1, located on chromosome 9, results in an oncogene that produces an abnormal protein. This abnormal protein leads to increased tyrosine kinase activity, causing abnormal and uncontrolled growth of lymphocytes, ultimately leading to leukemia.

Depending on where the breakpoint within the BCR gene occurs, different rearrangements are produced. There are three main forms of the chimeric BCR/ABL1 oncogene:

– M-BCR-ABL1: When b3/a2 or a3 and b2/a2 and a3 are fused, a chimeric tyrosine kinase of 210 kDa (p210) is produced.
– m-BCR-ABL1: When e1/a2 or a3 are fused, a chimeric tyrosine kinase of 190 kDa (p190) is produced.
– p230: When e19/a2 or a3 are fused, a chimeric tyrosine kinase of 230 kDa is produced.

Additionally, the literature has described two other much less frequent rearrangements:
e6/a2 or a3 e8/a2 or a3.