Gene mutation patterns and their prognostic impact in a cohort of 1185 patients with acute myeloid leukemia

Blood. 2011 Nov 17;118(20):5593-603. doi: 10.1182/blood-2011-03-343988. Epub 2011 Aug 31.

Abstract

To evaluate the prognostic value of genetic mutations for acute myeloid leukemia (AML) patients, we examined the gene status for both fusion products such as AML1 (CBFα)-ETO, CBFβ-MYH11, PML-RARα, and MLL rearrangement as a result of chromosomal translocations and mutations in genes including FLT3, C-KIT, N-RAS, NPM1, CEBPA, WT1, ASXL1, DNMT3A, MLL, IDH1, IDH2, and TET2 in 1185 AML patients. Clinical analysis was mainly carried out among 605 cases without recognizable karyotype abnormalities except for 11q23. Of these 605 patients, 452 (74.7%) were found to have at least 1 mutation, and the relationship of gene mutations with clinical outcome was investigated. We revealed a correlation pattern among NPM1, DNMT3A, FLT3, IDH1, IDH2, CEBPA, and TET2 mutations. Multivariate analysis identified DNMT3A and MLL mutations as independent factors predicting inferior overall survival (OS) and event-free survival (EFS), whereas biallelic CEBPA mutations or NPM1 mutations without DNMT3A mutations conferred a better OS and EFS in both the whole group and among younger patients < 60 years of age. The use of molecular markers allowed us to subdivide the series of 605 patients into distinct prognostic groups with potential clinical relevance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Cohort Studies
  • DNA (Cytosine-5-)-Methyltransferases / genetics
  • DNA Methylation / genetics
  • DNA Methyltransferase 3A
  • Drug Resistance, Neoplasm / genetics
  • Female
  • Gene Expression Profiling*
  • Gene Expression Regulation, Leukemic / genetics*
  • Genetic Markers
  • Genetic Testing*
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / mortality*
  • Leukemia, Myeloid, Acute / therapy
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics
  • Nucleophosmin
  • Oncogene Proteins, Fusion / genetics
  • Predictive Value of Tests
  • Prognosis
  • Young Adult

Substances

  • DNMT3A protein, human
  • Genetic Markers
  • NPM1 protein, human
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • Nucleophosmin
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A