AML with gain of chromosome 8 as the sole chromosomal abnormality (+8sole) is associated with a specific molecular mutation pattern including ASXL1 mutations in 46.8% of the patients

Leuk Res. 2015 Mar;39(3):265-72. doi: 10.1016/j.leukres.2014.11.026. Epub 2014 Dec 16.

Abstract

Trisomy 8 is the most frequent cytogenetically gained aberration in AML. We compared 79 adult de novo AML with trisomy 8 as the sole cytogenetic abnormality (+8sole) to 511 normal karyotype AML patients (NK). +8sole patients were older (p=0.013), presented lower WBC counts (p=0.010), harbored more often ASXL1 mutations (p<0.001) and RUNX1 mutations (p=0.009), but less frequent FLT3-ITD (p=0.038), NPM1 mutations (p<0.001) and double-mutated CEBPA (p=0.038) than NK patients. No prognostic difference was found between +8sole and NK. With respect to genetic stability we found +8sole was instable, and molecular markers were either stable or gained in number and diversity.

Keywords: AML; Genetic stability; Molecular mutations; Prognosis; Trisomy 8.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Chromosomes, Human, Pair 8 / genetics
  • Cohort Studies
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Female
  • Follow-Up Studies
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute / diagnosis
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / mortality
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Neoplasm Staging
  • Nucleophosmin
  • Prognosis
  • Repressor Proteins / genetics*
  • Survival Rate
  • Trisomy / genetics*
  • Young Adult
  • fms-Like Tyrosine Kinase 3 / genetics*

Substances

  • ASXL1 protein, human
  • Core Binding Factor Alpha 2 Subunit
  • NPM1 protein, human
  • RUNX1 protein, human
  • Repressor Proteins
  • Nucleophosmin
  • FLT3 protein, human
  • fms-Like Tyrosine Kinase 3

Supplementary concepts

  • Chromosome 8, trisomy