Real-time RT-PCR for quantitative detection of the inv(16) CBFB-MYH11 fusion transcript using cell-free plasma DNA/RNA. This assay identifies type A fusions, which account for >90%
The inv(16) occurs in about 10% of all acute myeloid leukemia and nearly all cases of AML with eosinophilia, subtype M4eo. The inversion is generally associated with relatively good outcome. This assay is recommended for diagnostic confirmation, for monitoring minimal residual disease, and for detection of relapse. c-KIT mutation testing may be considered for inv(16)-positive AML patients as c-KIT mutations are considered an adverse risk factor in these and other patients with core-binding factor AML. 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.