Genetic predisposition to molecular response in patients with myeloproliferative neoplasms treated with hydroxycarbamide

Leuk Res. 2013 Aug;37(8):917-21. doi: 10.1016/j.leukres.2013.03.013. Epub 2013 Apr 15.

Abstract

JAK2V617F allele burden was prospectively measured in polycythemia vera (PV, n=52) and essential thrombocythemia (ET, n=39) patients receiving hydroxycarbamide (HC) and analyzed according to JAK2 46/1 haplotype and genotype of SLC14A1, SLC14A2 and ARG2 urea transporters. Molecular response (MR) was obtained in 68.7% and 38.9% of PV patients with GG and AA or GA genotype in SLC14A2, respectively (p=0.07). No significant differences were observed neither in PV nor in ET according to JAK2 46/1 haplotype, SLC14A1 and ARG2. In conclusion, JAK2 46/1 haplotype does not influence MR in HC treated patients and urea transporters polymorphisms display a minimal effect.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antineoplastic Agents / therapeutic use
  • Arginase / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Haplotypes
  • Humans
  • Hydroxyurea / therapeutic use*
  • Janus Kinase 2 / genetics*
  • Male
  • Membrane Transport Proteins
  • Middle Aged
  • Mutation*
  • Myeloproliferative Disorders / drug therapy*
  • Myeloproliferative Disorders / genetics*
  • Outcome Assessment, Health Care
  • Polycythemia Vera / drug therapy
  • Polycythemia Vera / genetics
  • Prospective Studies
  • Thrombocythemia, Essential / drug therapy
  • Thrombocythemia, Essential / genetics
  • Urea Transporters

Substances

  • Antineoplastic Agents
  • Membrane Transport Proteins
  • Janus Kinase 2
  • Arginase
  • Hydroxyurea