Cytogenetic correlates of TET2 mutations in 199 patients with myeloproliferative neoplasms

Am J Hematol. 2010 Jan;85(1):81-3. doi: 10.1002/ajh.21562.

Abstract

TET2 is a putative tumor suppressor gene located at chromosome 4q24. TET2 mutations were recently described in several myeloid neoplasms but correlations with cytogenetic findings have not been studied. Among a recently described cohort of patients with myeloproliferative neoplasms (MPN) who underwent TET2 mutation analysis, 199 had information on karyotype at diagnosis or time of TET2 testing: 71 polycythemia vera (PV), 55 primary myelofibrosis (PMF), 43 essential thrombocythemia (ET), 13 post-PV MF, 7 post-ET MF, and 10 blast phase MPN. Forty eight patients (24%) exhibited abnormal karyotype: 15 favorable (sole 20q-, 13q-, or +9), 8 unfavorable (complex karyotype or sole +8), and 25 “other” cytogenetic abnormalities. We found no significant difference either in the incidence or type of cytogenetic abnormalities between TET2 mutated (n = 25) and unmutated (n = 174) cases. Seventy nine patients, including 14 with TET2 mutations, underwent follow-up cytogenetic testing and the findings were again not affected by TET2 mutational status. We conclude that TET2 mutated MPN patients are not cytogenetically different than their TET2 unmutated counterparts.

Publication types

  • Letter

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • DNA-Binding Proteins / genetics*
  • Dioxygenases
  • Female
  • Humans
  • Janus Kinase 2 / genetics
  • Karyotyping
  • Male
  • Middle Aged
  • Mutation*
  • Myeloproliferative Disorders / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Young Adult

Substances

  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • Dioxygenases
  • TET2 protein, human
  • JAK2 protein, human
  • Janus Kinase 2