ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome

Leukemia. 2013 Jan;27(1):82-91. doi: 10.1038/leu.2012.262. Epub 2012 Sep 11.

Abstract

We aimed at evaluating ASXL1mut in 740 AML with intermediate risk karyotype for frequency, association with other mutations and impact on outcome. Five hundred fifty-three cases had a normal karyotype (NK) and 187 had intermediate risk aberrant cytogenetics. Overall, ASXL1mut were detected in 127/740 patients (17.2%). ASXL1mut were more frequent in males than in females (23.5% vs 9.9%, P<0.001). They were associated with higher age (median: 71.8 vs 61.8, P<0.001), a history of preceding myelodysplastic syndromes, and with a more immature immunophenotype compared with patients with wild-type ASXL1 (ASXL1wt). ASXL1mut were more frequent in patients with aberrant karyotype (58/187; 31.0%), especially in cases with trisomy 8 (39/74; 52.7%), than in those with NK (69/553; 12.5%; P<0.001). ASXL1mut were observed more frequent in RUNX1mut (P<0.001), and less frequent in NPM1mut (P<0.001), FLT3-internal tandem duplication (ITD) (P<0.001), FLT3-TKD (P=0.001) and DNMT3Amut (P<0.001). Patients with ASXL1mut had a shorter overall survival (OS) (P<0.001) and event free survival (P=0.012) compared with ASXL1wt. In multivariable analysis, ASXL1mut was an independent adverse factor for OS (P=0.032, relative risk: 1.70). In conclusion, ASXL1mut belong to the most frequent mutations in intermediate risk group AML. Their strong and independent dismal prognostic impact suggests the inclusion into the diagnostic work-up of AML.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Core Binding Factor Alpha 2 Subunit / genetics
  • DNA (Cytosine-5-)-Methyltransferases / genetics
  • DNA Methyltransferase 3A
  • Exons / genetics*
  • Female
  • Follow-Up Studies
  • Humans
  • Immunophenotyping
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / mortality*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / mortality
  • Nuclear Proteins / genetics
  • Nucleophosmin
  • Prognosis
  • Repressor Proteins / genetics*
  • Risk Factors
  • Survival Rate
  • Young Adult
  • fms-Like Tyrosine Kinase 3 / genetics

Substances

  • ASXL1 protein, human
  • Core Binding Factor Alpha 2 Subunit
  • DNMT3A protein, human
  • Nuclear Proteins
  • RUNX1 protein, human
  • Repressor Proteins
  • Nucleophosmin
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A
  • FLT3 protein, human
  • fms-Like Tyrosine Kinase 3