Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia

Blood. 2007 Aug 1;110(3):840-6. doi: 10.1182/blood-2006-12-064287. Epub 2007 Mar 22.

Abstract

JAK2 617V>F mutation occurs in a homozygous state in 25% to 30% of patients with polycythemia vera (PV) and 2% to 4% with essential thrombocythemia (ET). Whether homozygosity associates with distinct clinical phenotypes is still under debate. This retrospective multicenter study considered 118 JAK2 617V>F homozygous patients (104 PV, 14 ET) whose clinical characteristics were compared with those of 587 heterozygous and 257 wild-type patients. Irrespective of their clinical diagnosis, homozygous patients were older, displayed a higher leukocyte count and hematocrit value at diagnosis, and presented larger spleen volume. Aquagenic pruritus was significantly more common among homozygous PV patients. JAK2 617V>F homozygosity associated with more frequent evolution into secondary myelofibrosis in both PV and ET. After adjustment for sex, age, leukocyte count, and previous thrombosis in a multivariate analysis, homozygous ET patients displayed a significantly higher risk of cardiovascular events (hazard ratio [HR] 3.97, 95% confidence interval [CI] 1.34-11.7; P = .013) than wild-type (HR = 1.0) or heterozygous patients (HR = 1.49). No significant association of JAK2 617V>F homozygosity with thrombosis risk was observed in PV. Finally, JAK2 617V>F homozygous patients were more likely to receive chemotherapy for control of disease. We conclude that JAK2 617V>F homozygosity identifies PV or ET patients with a more symptomatic myeloproliferative disorder and is associated with a higher risk of major cardiovascular events in patients with ET.

Publication types

  • Comparative Study
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Substitution
  • Cardiovascular Diseases / blood
  • Cardiovascular Diseases / etiology
  • Cardiovascular Diseases / genetics
  • Cardiovascular Diseases / pathology
  • Female
  • Hematocrit
  • Heterozygote
  • Homozygote*
  • Humans
  • Janus Kinase 2* / genetics
  • Leukocyte Count
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Organ Size
  • Polycythemia Vera / blood*
  • Polycythemia Vera / complications
  • Polycythemia Vera / genetics
  • Polycythemia Vera / pathology
  • Pruritus / blood
  • Pruritus / etiology
  • Pruritus / genetics
  • Pruritus / pathology
  • Retrospective Studies
  • Risk Factors
  • Spleen / pathology
  • Thrombocythemia, Essential / blood*
  • Thrombocythemia, Essential / complications
  • Thrombocythemia, Essential / genetics
  • Thrombocythemia, Essential / pathology
  • Thrombosis / blood
  • Thrombosis / etiology
  • Thrombosis / genetics
  • Thrombosis / pathology

Substances

  • JAK2 protein, human
  • Janus Kinase 2