Detection of the c-KIT mutations in acute myeloid leukemia

Large subgroup of acute myeloid leukemia (AML) are patients with so called „Core Binding Factor“ leukemias (CBF-AML). CBF-acute myeloid leukemia is defined by the presence of two chromosomal abnormalities:

t(8;21) or inv(16)/t(16;16). Latest studies have shown that the presence of these mutations can influence prognosis worsening it and that patients baring c-KIT mutations require more intensive therapy. Mutations in the  c-KIT gene represent a new, additional marker for CBF-AML disease. In order to properly diagnose and treat the patients, as well as to predict the clinical outcome of the disease, it is necessary to test for the presence of mutations in the c-KIT gene.

The material for the detection of mutations in the exon 17 of c-KIT gene is DNA isolated from the bone marrow aspirate. Methodology used for the detection of these mutations is PCR method, followed by direct sequencing. For analysis, it is necessary to deliver 4 to 5 ml of bone marrow, collected with 3.8% Na-citrate as an anticoagulant. Bone marrow specimen must be delivered on the same day when it is collected. Do not freeze the samples! Submission of samples can be made on every working day from 10-13 h. Also, there is a possibility to send the sample via Express post. Analysis is completed within 10 working days. The result and the receipt are delivered to the home address by registered mail, or can be picked up in person from 10 am to 4 pm every working day at the Institute.

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