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

@article{Vannucchi2007ClinicalPO,
  title={Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia.},
  author={Alessandro Maria Vannucchi and Elisabetta Antonioli and Paola Guglielmelli and Alessandro Rambaldi and Giovanni Barosi and Roberto Marchioli and Rosa Maria Marfisi and Guido Finazzi and Vittoria Guerini and Fabrizio Giuseppe Menchini Fabris and Maria Luigia Randi and Valerio De Stefano and Sabrina Caberlon and Agostino Tafuri and Marco Ruggeri and Giorgina Specchia and Vincenzo Liso and Edoardo Rossi and Enrico Maria Pogliani and Luigi Gugliotta and Alberto Bosi and Tiziano Barbui},
  journal={Blood},
  year={2007},
  volume={110 3},
  pages={840-6}
}
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… CONTINUE READING
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