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

Alessandro M. Vannucchi, Elisabetta Antonioli, Paola Guglielmelli, Alessandro Rambaldi, Giovanni Barosi, Roberto Marchioli, Rosa Maria Marfisi, Guido Finazzi, Vittoria Guerini, Fabrizio Fabris, Maria Luigia Randi, Valerio De Stefano, Sabrina Caberlon, Agostino Tafuri, Marco Ruggeri, Giorgina Specchia, Vincenzo Liso, Edoardo Rossi, Enrico Pogliani, Luigi GugliottaAlberto Bosi, Tiziano Barbui

Research output: Contribution to journalArticlepeer-review


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 617V7gt;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.

Original languageEnglish
Pages (from-to)840-846
Number of pages7
Issue number3
Publication statusPublished - Aug 1 2007

ASJC Scopus subject areas

  • Hematology


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