Genetic characterization of ABT-199 sensitivity in human AML

Leukemia. 2020 Jan;34(1):63-74. doi: 10.1038/s41375-019-0485-x. Epub 2019 Jul 12.

Abstract

Acute myeloid leukemias (AML) with mutations in the NPM1 gene (NPM1c+) represent a large AML subgroup with varying response to conventional treatment, highlighting the need to develop targeted therapeutic strategies for this disease. We screened a library of clinical drugs on a cohort of primary human AML specimens and identified the BCL2 inhibitor ABT-199 as a selective agent against NPM1c+ AML. Mutational analysis of ABT-199-sensitive and -resistant specimens identified mutations in NPM1, RAD21, and IDH1/IDH2 as predictors of ABT-199 sensitivity. Comparative transcriptome analysis further uncovered BCL2A1 as a potential mediator of ABT-199 resistance in AML. In line with our observation that RAD21 mutation confers sensitivity to ABT-199, we provide functional evidence that reducing RAD21 levels can sensitize AML cells to BCL2 inhibition. Moreover, we demonstrate that ABT-199 is able to produce selective anti-AML activity in vivo toward AML with mutations associated with compound sensitivity in PDX models. Overall, this study delineates the contribution of several genetic events to the response to ABT-199 and provides a rationale for the development of targeted therapies for NPM1c+ AML.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antineoplastic Agents / pharmacology*
  • Bridged Bicyclo Compounds, Heterocyclic / pharmacology*
  • Drug Resistance, Neoplasm / genetics*
  • Humans
  • Leukemia, Myeloid, Acute / drug therapy
  • Leukemia, Myeloid, Acute / genetics*
  • Minor Histocompatibility Antigens / genetics*
  • Mutation
  • Nuclear Proteins / genetics
  • Nucleophosmin
  • Proto-Oncogene Proteins c-bcl-2 / genetics*
  • Sulfonamides / pharmacology*
  • Tumor Cells, Cultured

Substances

  • Antineoplastic Agents
  • BCL2-related protein A1
  • Bridged Bicyclo Compounds, Heterocyclic
  • Minor Histocompatibility Antigens
  • NPM1 protein, human
  • Nuclear Proteins
  • Proto-Oncogene Proteins c-bcl-2
  • Sulfonamides
  • Nucleophosmin
  • venetoclax

Grants and funding