TEST NAME
– BCR/ABL1 Kinase Domain Mutation Analysis
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ABOUT TEST
– Chronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, the product of the t(9;22)(q34;q11) translocation. This translocation results in the BCR/ABL fusion protein with constitutive ABL tyrosine kinase activity.
The kinase inhibitor imatinib (STI571, Gleevec®) inhibits ABL kinase activity and is now the standard of care for early phase CML. Prolonged treatment with imatinib can lead to drug resistance, especially in patients with advanced disease. A large portion of resistant patients have acquired point mutations in the ABL kinase domain that renders the kinase resistant to the drug. Sites of point mutations in ABL associated with imatinib resistance span the entire kinase domain but often cluster in important hotspots This test detects greater than 90 percent of ABL mutations that may lead to imatinib resistance, including the important T315I and P-loop mutations. A range of levels of resistance and prognosis has been observed for different mutations. ABL kinase domain mutations that cause only moderate resistance may be overcome by higher imatinib doses.
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GENES TESTED
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SAMPLE REQUIREMENTS
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TAT
– 17
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Related Tests
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