Influence of JAK2 46/1 haplotype in the natural evolution of JAK2V617F allele burden in patients with myeloproliferative neoplasms

Alberto Alvarez-Larrán, Anna Angona, Luz Martínez-Avilés, Beatriz Bellosillo, Carlos Besses

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11 Citations (Scopus)

Abstract

JAK2V617F allele burden was prospectively measured in untreated patients with polycythaemia vera (PV, n= 26) or essential thrombocythaemia (ET, n= 36) and compared according to JAK2 46/1 haplotype status. The mean increase in JAK2V617F allele burden per year was 1%, 0.8% and 6% for PV patients with the JAK2 46/1 haplotype in negative, heterozygous and homozygous status, respectively (p< 0.001). The JAK2 46/1 haplotype had no influence in JAK2V617 allele burden in ET. In conclusion, untreated PV patients homozygous for the JAK2 46/1 haplotype show a progressive increase in the JAK2V617F allele burden during the evolution of the disease. © 2011 Elsevier Ltd.
Original languageEnglish
Pages (from-to)324-326
JournalLeukemia Research
Volume36
Issue number3
DOIs
Publication statusPublished - 1 Mar 2012

Keywords

  • Allele burden
  • Essential thrombocythaemia
  • JAK2 46/1 haplotype
  • JAK2V617F
  • Polycythaemia vera

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