The Clinical Significant Of The Detection Of JAK2V617F Point Mutations In Meloproferative Neoploasms Patients

obsjective:Myeloproliferative neoplasms(MPNs) can be divided into foursubtypes:Polycythemia vera (PV)、Essential thrombocythemia (ET)、Chornic myeloidleukemia (CML)and Primary myelofibrosis(PMF).Various subtypes of clinicalmanifestation,howerer,with the progress of the diseases,some may be transformed intoeach other or into various types of leukemia.Since2005,a number of studies haveconfirmed the BCR-ABL (-)MPNs patients’JAK2gene exist a high frequency of pointmutation.The JAK2gene coding sequence of1849based from guaninenucleotide,thymine nucleotide substitution(G→T), cause the617amino acidvaline,phenylalanine instead,so the activity of JAK2protein kimase is enhanced,thecells malignant proliferation,finally MPNs occurred. The subject is to detect theincidence of JAK2V617F in50cases MPNs patients, to provide a basis for thediagnosis and threatment.Contrast the patient’s age,blood count and the occurrence ofbleeding,thromboembolism and transformation to leukemia.Preliminary summary thecorrelation between JAK2V617F mumations and the clinical features in MPNs patients.Methods:1.Select50cases of the MPNs patients who don’t have BCR-ABL forthe study group,including PV20cases,ET21cases,PMF9cases.Select CML10cases,10cases of healthy volunteers as a control group.2. Use AS-PCR and the gene sequencing method to detect the JAK2V617Fmutations in the patients in earch group and the healthy volunteers.3.Use the statistical methods to analyze the relationship between the JAK2V617Fwith the BCR-ABL negative MPN’clinical feature, incluing blood cell count、bleeding、thromboembolism and change into leukemia.Results:1.A total of34patients exist JAK2V617F mutation,18cases of PV(90%),11cases of ET(52%),5cases of PMF(55%),the control group negative. 2. In hematological features, the JAK2V617F-positive PV patients’platelet is361.6±72.3, higher than wild type, the JAK2V617F-positive ET patients’leukocyte is17±10.5, higher than wild type, have statistically significant3.In18patients with mutant PV,2cases of thromboembolism,1case change intoleukermia; in11patients with mutant ET,5cases of bleeding,1case ofthromboembolism;in5patients with mutant PMF,1case of bleeding,1case ofthromboembolism, high incidence of complications compared to the wild type.4.1JAK2V617F mutation-positive PV patient have46,XYt (13;15)(Q34;Q14)[2]/46,XY[18] abnormal karyotype.5. Mutant PV patients age is58.2±14.8, mutant ET patients age is64.2±12.2,mutant PMF is64.4±7.8, compared with wild-type patients, two groups in age of onset,the difference don’t have statistically significant.Conclusion:1.The JAK2V617F gene mutations contribute to the BCR-ABLnegative MPNs’S diagnosis,can be used as an independence molecular targets,m0adeMPNs to early detection and early treatment to reduce the rate of misdiagnosis,make thediagnosis more simple,fast and accurate.2.JAK2V617F mutations occurs in the three classic subtypes,including PV、ETandPMF patients,the incidence have significant differences，PV is the highest,ET is thelowest.3.JAK2V617F point mutation positive and negative patients with hematologicalfeature there are differents,the mutant patient’s white blood cells,platelets higer than thewild-type.4. In the JAK2V617F point mutation positive and negative patients,mutantpatients with bleeding,thrombembolic complications was higher than in wild-type.5. In the JAK2V617F point mutation positive and negative patients,mutant patienthave more chance with abnomal karyotype,may be more likely to become leukemia.