Myeloproliferative Disorders Of The Jak2v617f, Mplw515l Point Mutations And Jak2 Exon 12 Mutation Research

PartⅠCorrelations of JAK2V617F mutation with clinical and laboratory findings in essential thrombocythemia patientsObjective To evaluate the frequency of JAK2V617F mutation and analyze its clinical associations in patients with essential thrombocythemia(ET).Methods Mutation was detected by allele specific polymerase chain reaction (AS-PCR)and clinical features of 66 ET patients were retrospectively reviewed.Results Among 66 patients,29 patients(41.0%)had JAK2V617F mutation by AS-PCR.The patients carrying the mutation displayed higher bone marrow erythropoiesis(26.9%±9.4%vs 16.3%±8.7%,P＜0.05),higher granulopoiesis /erythropoiesis(2.9±1.8 vs 5.2±2.9,P＜0.05)and incidence of microvascular disturbances(29.6%vs 5.1%,P＜0.05),But the age,gender,leukocyte,platelet counts,hemoglobin,bone granulopoiesis,splenomegaly,history of thrombosis and hemorrhage had no difference between patients with and without the mutation.Conclusion The frequency of the mutation in ET patients is 41.0%.The presence of the JAK2V617F mutation is associated with a higher bone marrow erythropoiesis in ET patients at dignosis. PartⅡMPLW515L mutation in myeloproliferative diseases patientsObjective To evaluate the frequency of MPLW515L and JAK2V617F mutations in patients with myeloproliferative diseases(MPD).Methods MPLW515L and JAK2V617F mutations were simultaneously detected by alleles specific polymerase chain reaction(AS-PCR)in 190 MPD patients.Results MPLW515L mutation was detected in 1 of 102(1.0%)essential thrombocythemia(ET)patients and was not detected in polycythemia vera (PV),idiopathic myelofibrosis(IMF),chronic myelogenous leukemia(CML) patients.JAK2V617F mutation was detected in 20 of 32 PV patients(62.5%), 43 of 102 ET patients(42.1%),5 of 13 IMF patients(38.1%),and was not detected in CML patients.Conclusion MPLW515L mutation was detected in ET patient,but was not found in PV,IMF and CML.JAK2V617F mutation was detected in PV,ET and IMF,but was not found in CML. PartⅢJAK2 exon 12 mutations in polycythemia vera patientsObjective To searched for JAK2 exon 12 mutations in patients with polycythemia vera(PV).Methods Polymerase chain reaction(PCR)was used for 12 JAK2V617F -negative PV patients to amply the region of JAK2 exon 12,direct gene sequencing was performed to detect mutations of JAK2 exon 12.Results 3 of 12(25.0%)JAK2V617F-negative PV patients had JAK2 exon 12 mutations,which were H538QK539L,K539L and N542-E543del.Conclusion JAK2 exon 12 mutations could exist in JAK2V617F-negative PV patients.Detection of JAK2 exon 12 mutations is useful for clinical diagnosis of PV.