How is acute myeloid leukemia (AML) with genetic markers for intermediate-risk disease treated?

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

The choice of treatment for patients with intermediate-risk disease is controversial. While some oncologists refer intermediate-risk patients in first remission for transplant, others give standard consolidation with high-dose cytarabine and only refer patients for transplant if they relapse. Neither option has yet been found categorically to be preferable. [8]

Studies focusing on molecular markers such as FLT3 -ITD ,NPM1, CEBPA, IDH1, IDH2, and DNMT3A are helping to define which patients with intermediate-risk disease by cytogenetics should receive standard consolidation therapy vs transplantation, but results are still immature. The National Comprehensive Cancer Network (NCCN) currently recommends routine evaluation for CEBPA, NPM1, and FLT3 -ITD in patients with normal cytogenetics, as well as testing for c-KIT in patients with otherwise favorable cytogenetics such as inv(16) or t(8;21). [8, 23]

The NCI/COG TARGET-AML initiative study demonstrated significant variability in the mutational profile and clonal evolution of pediatric AML from diagnosis to relapse. Mutations that persisted from diagnosis to relapse had a significantly higher diagnostic variant allele fraction (VAF) than those that resolved at relapse (median VAF 0.43 vs. 0.24, P< 0.001). Further analysis revealed that 90% of the diagnostic variants with VAF >0.4 persisted to relapse, as compared to 28% with VAF < 0.2 (P< 0.001). [23]


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