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标题：JAK2-V617F Mutation is Associated with Clinical and Laboratory Features of Myeloproliferative Neoplasms
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作者：Načinović Duletić, Antica ; Dekanić, Andrea ; Hadžisejdić, Ita 等
期刊名称：Collegium Antropologicum
印刷版ISSN：0350-6134
出版年度：2012
卷号：36
期号：3
页码：859-865
出版社：Hrvatsko antropološko društvo
摘要：The aim of this study is to investigate the differences of clinical and laboratory parameters between patients with JAK2-V617F positive myeloproliferative neoplasms (MPNs) and JAK2 wild type MPNs. DNA was isolated from peripheral blood granulocytes of 106 patients treated at Rijeka University Hospital Center: 41 with polycythemia vera (PV), 43 with essential thrombocythemia (ET), 9 with primary myelofibrosis (PMF) and 13 with myeloproliferative neoplasm- -unclassifiable (MPN-u). The JAK2-V617F mutation was detected using allele specific PCR. Laboratory and clinical parameters were obtained from patient’s medical records. The JAK2-V617F mutation was detected in 69% (73/106) patients with MPNs. The results revealed significantly different prevalence of JAK2-V617F mutation, between MPNs entities: 88% in PV, 58% in ET, 56% in PMF and 54% in MPNs-unclassified disorders. The JAK2-V617F mutation significantly correlated with higher leukocyte count and alkaline phosphatase score in ET group and with higher platelets count, leukocyte alkaline phosphatase score and serum lactate dehydrogenase in PV group. Vascular events were associated with elevated platelets count in wholeMPNs group, with higher platelets and leukocyte count in ET and with splenomegaly in PV patients. Clinical and laboratory data revealed significant contribution of JAK2-V617F mutation to the development of clinical phenotype in patients with distinct subgroups of MPNs.
关键词：JAK2-V617F; essential thrombocythemia; polycythemia vera; primary myelofibrosis.