Chronic myelogenous leukemia (CML) is genetically characterized by the presence of the reciprocal translocation t(9;22)(q34;q11), resulting in a BCR/ABL1 gene fusion on the derivative chromosome 22, called the Philadelphia (Ph) chromosome. The same translocation can also be found in acute myeloid leukemia (AML) and acute lymphocytic leukemia (ALL) with some variation in the breakpoint region. Glivec® (imatinib mesylate) treatment targeting the BCR/ABL1 active tyrosine kinase has become a major drug in treating CML, gastrointestinal stromal tumors, and other cancers.
Deletions at the t(9;22) breakpoint regions, found in 5% of CML patients with a Ph translocation, have been associated with resistance to treatment in patients receiving tyrosine kinase inhibitors.
Clinical Applications
- Chronic Myelogenous Leukemia and Myeloproliferative Neoplasms (CML/MPN)
- Acute Lymphoblastic Leukemia (ALL)
- Acute Myelogenous Leukemia (AML)