What is the role of genetic testing in the treatment of acute myeloid leukemia (AML)?

Updated: Dec 17, 2018
  • Author: Ari VanderWalde, MD, MPH, MA, FACP; Chief Editor: Karl S Roth, MD  more...
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Answer

Cytogenetic testing of bone marrow samples is widely commercially available, and results are consistent and interpretable. Fluorescence in-situ hybridization (FISH) can also identify cytogenetic abnormalities and should be done in addition to (but not instead of) routine cytogenetics.

In April 2017, the FDA approved LeukoStrat CDx FLT3 Mutation Assay. The FLT3 mutation, which, if present, identifies patient who are considered poor-risk and therefore likely to benefit from treatments other than conventional chemotherapy (eg, midostaurin, transplant). Midostaurin, a multikinase inhibitor, was also approved by the FDA in April 2017. It is indicated in combination with standard cytarabine and daunorubicin induction and cytarabine consolidation chemotherapy for adults with newly diagnosed AML who are FLT3 mutation-positive, as detected by an FDA-approved test.

Analysis of other molecular markers such as NPM1, c-KIT, and CEBPA are less commonly available outside research institutions. If a physician is in an area where these tests are not readily available, it is recommended to preserve additional aliquots of bone marrow aspirate at the time of diagnosis. Once cytogenetic information has returned, the decision can be made whether molecular markers would further contribute to treatment decisions. For example, if the local pathology laboratory shows normal cytogenetics, it would be of use to send the additional aliquots to an outside research or academic facility to test further for mutations of biomarkers.


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