DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia

Research output: Contribution to journalJournal articleResearchpeer-review

  • Lili Milani
  • Anders Lundmark
  • Anna Kiialainen
  • Jessica Nordlund
  • Trond Flaegstad
  • Erik Forestier
  • Mats Heyman
  • Gudmundur Jonmundsson
  • Jukka Kanerva
  • Schmiegelow, K.
  • Stefan Söderhäll
  • Mats Gustafsson
  • Gudmar Lönnerholm
  • Ann-Christine Syvänen
Despite improvements in the prognosis of childhood acute lymphoblastic leukemia (ALL), subgroups of patients would benefit from alternative treatment approaches. Our aim was to identify genes with DNA methylation profiles that could identify such groups. We determined the methylation levels of 1320 CpG sites in regulatory regions of 416 genes in cells from 401 children diagnosed with ALL. Hierarchical clustering of 300 CpG sites distinguished between T-lineage ALL and B-cell precursor (BCP) ALL and between the main cytogenetic subtypes of BCP ALL. It also stratified patients with high hyperdiploidy and t(12;21) ALL into 2 subgroups with different probability of relapse. By using supervised learning, we constructed multivariate classifiers by external cross-validation procedures. We identified 40 genes that consistently contributed to accurate discrimination between the main subtypes of BCP ALL and gene sets that discriminated between subtypes of ALL and between ALL and controls in pairwise classification analyses. We also identified 20 individual genes with DNA methylation levels that predicted relapse of leukemia. Thus, methylation analysis should be explored as a method to improve stratification of ALL patients. The genes highlighted in our study are not enriched to specific pathways, but the gene expression levels are inversely correlated to the methylation levels.
Original languageEnglish
JournalBlood
Volume115
Issue number6
Pages (from-to)1214-25
Number of pages12
ISSN0006-4971
DOIs
Publication statusPublished - 11 Feb 2010

ID: 34174250