Aberrant DNA methylation characterizes juvenile myelomonocytic leukemia with poor outcome

Blood. 2011 May 5;117(18):4871-80. doi: 10.1182/blood-2010-08-298968. Epub 2011 Mar 15.

Abstract

Aberrant DNA methylation contributes to the malignant phenotype in virtually all types of cancer, including myeloid leukemia. We hypothesized that CpG island hypermethylation also occurs in juvenile myelomonocytic leukemia (JMML) and investigated whether it is associated with clinical, hematologic, or prognostic features. Based on quantitative measurements of DNA methylation in 127 JMML cases using mass spectrometry (MassARRAY), we identified 4 gene CpG islands with frequent hypermethylation: BMP4 (36% of patients), CALCA (54%), CDKN2B (22%), and RARB (13%). Hypermethylation was significantly associated with poor prognosis: when the methylation data were transformed into prognostic scores using a LASSO Cox regression model, the 5-year overall survival was 0.41 for patients in the top tertile of scores versus 0.72 in the lowest score tertile (P = .002). Among patients given allogeneic hematopoietic stem cell transplantation, the 5-year cumulative incidence of relapse was 0.52 in the highest versus 0.10 in the lowest score tertile (P = .007). In multivariate models, DNA methylation retained prognostic value independently of other clinical risk factors. Longitudinal analyses indicated that some cases acquired a more extensively methylated phenotype at relapse. In conclusion, our data suggest that a high-methylation phenotype characterizes an aggressive biologic variant of JMML and is an important molecular predictor of outcome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Morphogenetic Protein 4 / genetics
  • Calcitonin / genetics
  • Calcitonin Gene-Related Peptide
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cohort Studies
  • CpG Islands
  • Cyclin-Dependent Kinase Inhibitor p15 / genetics
  • DNA Methylation*
  • DNA, Neoplasm / genetics
  • DNA, Neoplasm / metabolism
  • Disease-Free Survival
  • Female
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Infant
  • Kaplan-Meier Estimate
  • Leukemia, Myelomonocytic, Juvenile / genetics*
  • Leukemia, Myelomonocytic, Juvenile / metabolism
  • Leukemia, Myelomonocytic, Juvenile / therapy
  • Male
  • Prognosis
  • Protein Precursors / genetics
  • Receptors, Retinoic Acid / genetics
  • Risk Factors
  • Treatment Outcome

Substances

  • BMP4 protein, human
  • Bone Morphogenetic Protein 4
  • CALCA protein, human
  • CDKN2B protein, human
  • Cyclin-Dependent Kinase Inhibitor p15
  • DNA, Neoplasm
  • Protein Precursors
  • Receptors, Retinoic Acid
  • retinoic acid receptor beta
  • Calcitonin
  • Calcitonin Gene-Related Peptide