title: Influence of JAK2 46/1 haplotype in the natural evolution of JAK2V617F allele burden in patients with myeloproliferative neoplasms.
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.
authors: Hematology Department, IMIM-Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain. 95967@parcdesalutmar.cat
authors: Alberto
authors: A
authors: Alvarez-Larrán
authors: Anna
authors: A
authors: Angona
authors: Luz
authors: L
authors: Martínez-Avilés
authors: Beatriz
authors: B
authors: Bellosillo
authors: Carlos
authors: C
authors: Besses
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005075:Biological Evolution; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006239:Haplotypes / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011087:Polycythemia Vera / Q000235:genetics*; D011379:Prognosis; D011446:Prospective Studies; D060888:Real-Time Polymerase Chain Reaction; D013920:Thrombocythemia, Essential / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; C507924:JAK2 protein, human; D053614:Janus Kinase 2