EZH2 mutational status predicts poor survival in myelofibrosis

Blood. 2011 Nov 10;118(19):5227-34. doi: 10.1182/blood-2011-06-363424. Epub 2011 Sep 14.

Abstract

We genotyped 370 subjects with primary myelofibrosis (PMF) and 148 with postpolycythemia vera/postessential thrombocythemia (PPV/PET) MF for mutations of EZH2. Mutational status at diagnosis was correlated with hematologic parameters, clinical manifestations, and outcome. A total of 25 different EZH2 mutations were detected in 5.9% of PMF, 1.2% of PPV-MF, and 9.4% of PET-MF patients; most were exonic heterozygous missense changes. EZH2 mutation coexisted with JAK2V617F or ASXL1 mutation in 12 of 29 (41.4%) and 6 of 27 (22.2%) evaluated patients; TET2 and CBL mutations were found in 2 and 1 patients, respectively. EZH2-mutated PMF patients had significantly higher leukocyte counts, blast-cell counts, and larger spleens at diagnosis, and most of them (52.6%) were in the high-risk International Prognostic Score System (IPSS) category. After a median follow-up of 39 months, 128 patients (25.9%) died, 81 (63.3%) because of leukemia. Leukemia-free survival (LFS) and overall survival (OS) were significantly reduced in EZH2-mutated PMF patients (P = .028 and P < .001, respectively); no such impact was seen for PPV/PET-MF patients, possibly due to the low number of mutated cases. In multivariate analysis, survival of PMF patients was predicted by IPSS high-risk category, a < 25% JAK2V617F allele burden, and EZH2 mutation status. We conclude that EZH2 mutations are independently associated with shorter survival in patients with PMF.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • DNA-Binding Proteins / genetics*
  • Disease-Free Survival
  • Enhancer of Zeste Homolog 2 Protein
  • Exons
  • Female
  • Heterozygote
  • Humans
  • Janus Kinase 2 / genetics
  • Kaplan-Meier Estimate
  • Male
  • Middle Aged
  • Mutation*
  • Mutation, Missense
  • Polycomb Repressive Complex 2
  • Polycythemia Vera / etiology
  • Polycythemia Vera / genetics
  • Primary Myelofibrosis / complications
  • Primary Myelofibrosis / genetics*
  • Prognosis
  • Repressor Proteins / genetics
  • Thrombocythemia, Essential / etiology
  • Thrombocythemia, Essential / genetics
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • ASXL1 protein, human
  • DNA-Binding Proteins
  • Repressor Proteins
  • Transcription Factors
  • EZH2 protein, human
  • Enhancer of Zeste Homolog 2 Protein
  • Polycomb Repressive Complex 2
  • JAK2 protein, human
  • Janus Kinase 2