Cellular distribution of IDH mutations in AML during morphologic remission

Radha Ramanan, Ing Soo Tiong, Adam Ivey, Doen Ming Ong, Fiona C. Brown, Chyn Chua, Tongted Das, David Curtis

Research output: Contribution to journalArticleOtherpeer-review


Limited information exists about the cellular distribution of mutations which persist in remission in acute myeloid leukemia (AML) (variable considered pre-leukemic mutations). We hypothesized that mutations detectable in all cell compartments may be less pathogenic than those that are myeloid-restricted. Here, we describe the cellular compartments that have IDH mutations in five patients with IDH-mutated AML in morphologic remission. Unlike pre-leukemic clones harboring the more common DNMT3A, TET2 and ASXL1 (DTA) mutations, we show that IDH mutations are myeloid-restricted. This finding provides an explanation for the reports that IDH mutations carry a higher risk for relapse than DTA mutations. Detailed analysis of one case also shows acquisition of additional mutations in distinct cellular compartments, illustrating subclonal complexity associated with therapeutics.

Original languageEnglish
Article number106993
Number of pages3
JournalLeukemia Research
Publication statusPublished - Jan 2023


  • AML
  • Cellular distribution
  • IDH
  • Preleukemic
  • Remission

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