Which genetic mutations are most likely to respond to hypomethylating agents in the treatment of myelodysplastic syndrome (MDS)?

Updated: Jul 24, 2018
  • Author: Emmanuel C Besa, MD; Chief Editor: Koyamangalath Krishnan, MD, FRCP, FACP  more...
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After sequencing 40 recurrently mutated myeloid malignancy genes in tumor DNA from 213 MDS patients, Bejar et al reported that response to hypomethylating agents was most likely to occur in patients with TET2 mutations and wild-type ASXL1, a pattern found in 10% of the MDS cases in their study. However, these authors note that their study did not identify any mutations that reliably and strongly predicted primary resistance to treatment, and thus their findings provide no genetic rationale for denying treatment with hypomethylating agents to any patients with MDS. [32]

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