Haematologica (May 2018)

Clinical relevance of IDH1/2 mutant allele burden during follow-up in acute myeloid leukemia. A study by the French ALFA group

  • Yann Ferret,
  • Nicolas Boissel,
  • Nathalie Helevaut,
  • Jordan Madic,
  • Olivier Nibourel,
  • Alice Marceau-Renaut,
  • Maxime Bucci,
  • Sandrine Geffroy,
  • Karine Celli-Lebras,
  • Sylvie Castaigne,
  • Xavier Thomas,
  • Christine Terré,
  • Hervé Dombret,
  • Claude Preudhomme,
  • Aline Renneville

DOI
https://doi.org/10.3324/haematol.2017.183525
Journal volume & issue
Vol. 103, no. 5

Abstract

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Assessment of minimal residual disease has emerged as a powerful prognostic factor in acute myeloid leukemia. In this study, we investigated the potential of IDH1/2 mutations as targets for minimal residual disease assessment in acute myeloid leukemia, since these mutations collectively occur in 15–20% of cases of acute myeloid leukemia and now represent druggable targets. We employed droplet digital polymerase chain reaction assays to quantify IDH1R132, IDH2R140, and IDH2R172 mutations on genomic DNA in 322 samples from 103 adult patients with primary IDH1/2 mutant acute myeloid leukemia and enrolled on Acute Leukemia French Association (ALFA) - 0701 or -0702 clinical trials. The median IDH1/2 mutant allele fraction in bone marrow samples was 42.3% (range, 8.2 – 49.9%) at diagnosis of acute myeloid leukemia, and below the detection limit of 0.2% (range,