Izvorni znanstveni članak
JAK2-V617F Mutation is Associated with Clinical and Laboratory Features of Myeloproliferative Neoplasms
Antica Načinović Duletić
; University of Rijeka, Rijeka University Hospital Center, Department of Hematology, Clinic of Internal Medicine, Rijeka, Croatia
Andrea Dekanić
; University of Rijeka, School of Medicine, Department of Pathology, Rijeka, Croatia
Ita Hadžisejdić
; University of Rijeka, School of Medicine, Department of Pathology, Rijeka, Croatia
Ivona Kušen
; University of Rijeka, Rijeka University Hospital Center, Department of Hematology, Clinic of Internal Medicine, Rijeka, Croatia
Koviljka Matušan Ilijaš
; University of Rijeka, School of Medicine, Department of Pathology, Rijeka, Croatia
Dragana Grohovac
; University of Rijeka, Rijeka University Hospital Center, Department of Hematology, Clinic of Internal Medicine, Rijeka, Croatia
Blaženka Grahovac
; University of Rijeka, School of Medicine, Department of Pathology, Rijeka, Croatia
Nives Jonjić
orcid.org/0000-0003-2995-0766
; University of Rijeka, School of Medicine, Department of Pathology, Rijeka, Croatia
Sažetak
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.
Ključne riječi
JAK2-V617F; essential thrombocythemia; polycythemia vera; primary myelofibrosis
Hrčak ID:
90374
URI
Datum izdavanja:
5.10.2012.
Posjeta: 1.378 *