Real-time RT-PCR for quantitative detection of the t(8;21) RUNX1-RUNX1T1 fusion transcript (formerly called AML1-ETO) using cell-free plasma DNA/RNA.
The (8;21) translocation occurs in approximately 5% of AML. These cases are usually considered core-binding factor AML (CBF-AML). The translocation is usually associated with a high rate of complete remission and longer overall survival in AML subtype M2. This assay is recommended for diagnostic confirmation of and for monitoring minimal residual disease. c-KIT mutation testing may be considered for t(8;21)-positive AML patients as c-KIT mutations are considered an adverse risk factor in these patients. In addition, this test can be used for determining if a bone marrow biopsy is an absolute necessity. It can also be used for performing molecular studies when a bone marrow sample is inadequate (dry tap, insufficient quantity, or not viable), or not available.
Peripheral blood: 2 x 6 mL EDTA tubes (total 12 mL) or 10 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.