Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations Academic Article uri icon


MeSH Major

  • Core Binding Factor Alpha 2 Subunit
  • Leukemia, Myeloid, Acute
  • Mutation
  • Oncogene Proteins, Fusion
  • Repressor Proteins


  • Acute myeloid leukemia (AML) with t(8;21) (q22;q22) is considered to have favorable risk; however, nearly half of t(8;21) patients are not cured, and recent studies have highlighted remarkable genetic heterogeneity in this subset of AML. Here we identify somatic mutations in additional sex combs-like 2 (ASXL2) in 22.7% (25/110) of patients with t(8;21), but not in patients with inv(16)/t(16;16) (0/60) or RUNX1-mutated AML (0/26). ASXL2 mutations were similarly frequent in adults and children t(8;21) and were mutually exclusive with ASXL1 mutations. Although overall survival was similar between ASXL1 and ASXL2 mutant t(8;21) AML patients and their wild-type counterparts, patients with ASXL1 or ASXL2 mutations had a cumulative incidence of relapse of 54.6% and 36.0%, respectively, compared with 25% in ASXL1/2 wild-type counterparts (P = .226). These results identify a high-frequency mutation in t(8;21) AML and identify the need for future studies to investigate the clinical and biological relevance of ASXL2 mutations in this unique subset of AML.

publication date

  • August 28, 2014



  • Academic Article



  • eng

PubMed Central ID

  • PMC4148766

Digital Object Identifier (DOI)

  • 10.1182/blood-2014-04-571018

PubMed ID

  • 24973361

Additional Document Info

start page

  • 1445

end page

  • 9


  • 124


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