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BackgroundThe JAK2V617F allele burden (JAK-AB) plays a central role in chronic myeloproliferative neoplasms (cMPNs); its presence has also been advocated in the differential diagnosis of cMPNs and as independent risk factor for venous thromboembolic complications. New treatment with Ruxolitinib may decrease JAK-AB but at the present, it is not clear the clinical advantage of such reductionAimsPrimary aim of the current study was to evaluate at diagnosis the JAK-AB in patients with Philadelphia negative cMPNs, in order to evaluate any association with standard demographic, clinical and laboratory parameters with particular reference to thrombotic risk.MethodsPeripheral blood samples from patients with Ph-negative cMPNs were collected, DNA from leucocytes was analysed for Jak-2 (V617F) gene mutation with amplification-refractory mutation system (ARMS) PCR, subsequently a real-time quantitative polymerase chain reaction (qRT-PCR) for JAK2V617F allele burden measurement was applied. A multivariate analysis was than performed to evaluate any association of AB with demographic and clinical data.ResultsOne hundred and twelve patients with Philadelphia negative cMPNs were investigated: 52 females with a median age at diagnosis of 69 years (age range: 18-95 years), 60 males with a median age of 68 years (age range: 18-82 years). Thirty-four patients had Essential Thrombocythemia (ET), fifty-two had Polycythaemia Vera (PV) and twenty-six had primary myelofibrosis (PMF). JAK2-AB of patients with an age of <69 years and >69 years, was respectively evaluated. Patients older than 69 years showed a significantly higher JAK2-AB . JAK-AB was significantly reduced in ET, when compared to PV and PMF. No correlation was found between median values of allele burden and IPSS and DIPSS scores. In patients with PV (n=52), a significant correlation was observed between allele burden and WHO2008 scoring system. No significant correlation was found between allele burden and thrombotic risk according to IPSET-t and IPSET-ET for PV and ET, respectively. Patients with a previous history of thrombosis had the highest JAK2-AB. In PMF, a positive correlation between JAK-AB and grading of fibrosis was found only for the highest grades (PMFIII and IV). JAK-AB had a positive correlation with splenomegaly in PMF.ConclusionOur report cannot confirm any correlation between allele burden and thrombotic risk, according to currently adopted scoring systems. A previous history of thrombosis is however associated with the highest AB in all cases.
Lingua originaleEnglish
Numero di pagine1
Stato di pubblicazionePublished - 2017


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