Humans ; Janus Kinase 2 ; antagonists & inhibitors ; genetics ; physiology ; Myeloproliferative Disorders ; diagnosis ; genetics ; Point Mutation ; Polycythemia Vera ; genetics ; Primary Myelofibrosis ; genetics ; Thrombocytopenia ; genetics

This study was aimed to investigate the incidence of JAK2V617F mutation in BCR-ABL negative patients with myeloproliferative disorders (MPD) and its relation with clinical characteristics of MPD. The sensitive and specific test for JAK2V617F mutation was established for improving diagnosis level in Gansu province. 47 BCR/ABL negative MPD patients and 12 healthy people were enrolled in this study. Allele specific polymerase chain reaction (AS-PCR) was used to amplify the exon 12 of JAK2 gene which harbours V617F mutation. The PCR products were identified by DNA sequencing. And its relation with clinical characteristics of MPD was analyzed also. The results indicated that the incidence of JAK2V617F positive mutation in 47 patients with BCR-ABL negative MPD was 74.5 % (35/47), including 83.9 %(26/31) in patients with polycythemia vera (PV), 60 % (9/15) in patients with essential thrombocythemia (ET), only in one patient with idiopathic myelofibrosis (IMF). In PV group, the patients with JAK2V617F positive mutation had higher counts of WBC and Plt than patients with JAK2V617F negative mutation. In ET group, the patients with JAK2V617F positive mutation had higher WBC count and Hb level than those in the patients with JAK2V617F negative mutation with tendency of suffering from complications such as hepatosplenomegaly, haemorrhage and thrombosis. It is concluded that JAK2V617F mutation is more frequent in BCR-ABL negative patients with MPD, the AS-PCR method is sensitive and specific for detection of the mutation and may successfully use in clinical examination.
Adult ; Aged ; Case-Control Studies ; Female ; Humans ; Janus Kinase 2 ; genetics ; Leukocyte Count ; Male ; Middle Aged ; Mutation ; Myeloproliferative Disorders ; diagnosis ; genetics ; Polycythemia Vera ; diagnosis ; genetics ; Primary Myelofibrosis ; diagnosis ; genetics

JAK2 V617F and MPL W515L/K mutations have been reported in approximately 50% and 5% of the patients with essential thrombocythemia (ET), respectively. We investigated the frequency of MPL W515L/K mutations in a series of consecutive patients with ET and post-essential thrombocythemia myelofibrosis (post-ET MF). The study subjects were 63 patients diagnosed either with ET (N=59) or post-ET MF (N=4) at our institution between June 2006 and February 2010. Among them, 35 (55.6%) had the JAK2 V617F mutation. MPL W515L/K mutations were detected by direct sequencing analyses of exon 10, and 2 patients were found to harbor the following MPL mutations: W515L in 1 patient with ET and W515K in 1 patient with post-ET MF. Neither of the patients had the JAK2 V617F mutation. The frequencies of the MPL W515L/K and JAK2 V617F-negative mutations in our subjects with ET/post-ET MF were 3.2% (2/63) and 7.1% (2/28), respectively. This is the first study to report the frequency of JAK2 V617F and MPL W515L/K mutations in Korean patients with ET/post-ET MF.
Aged ; Amino Acid Substitution ; Asian Continental Ancestry Group/*genetics ; Exons ; Female ; Humans ; Janus Kinase 2/*genetics ; Male ; Middle Aged ; *Mutation ; Polycythemia Vera/genetics ; Receptors, Thrombopoietin/*genetics ; Republic of Korea ; Sequence Analysis, DNA ; Thrombocythemia, Essential/diagnosis/*genetics

The aim of this study was to analyse the clinical characteristics and laboratory data, treatment and prognosis of polycythemia vera (PV). A retrospective study was performed for 71 PV patients treated in our hospital during January 2001 to July 2011 including analysis of clinical characteristics, laboratory data, myelogram chromosome karyotypes, BCR/ABL and JAK2V617F genes, as well as lactate dehydrogenase (LDH) and neuron-specific enolase (NSE) levels in serum and so on. The results showed that 71 patients (37 males and 34 females with a average age of 57.8 years) were diagnosed. Thrombosis and embolism occurred in 34 patients (47.89%), hemorrhage in 10 patients (14.08%), splenomegaly occurred in 44 patients. The onset of the disease was insidious, 13 patients (18.31%) were found to have PV during the treatments for other diseases. The average hemoglobin at diagnosis was 206.31 (171 - 242) g/L. JAK2V617F mutation was detected in 31 (81.58%) of 38 patients studied. The average levels of serum LDH and NSE were higher than normal and both positively correlated with hemoglobin (P = 0.007, P = 0.005). The disease outcomes were myelofibrosis for 3 patients, death from cerebral hemorrhage for 1 patient, and death from ineffective chemotherapy in 1 patient with ANLL-M2. It is concluded that PV is a chronic myeloproliferative disorder characterized predominantly by thrombosis and hemorrhage. The serum LDH and NSE levels are higher than the normal values. It is inferred that the serum LDH and NSE levels can reflect the degree of malignant proliferation of bone marrow hematopoietic cells and also can be used as an indicator to judge the therapeutic effect of PV.
Adult ; Aged ; Aged, 80 and over ; Female ; Fusion Proteins, bcr-abl ; genetics ; Humans ; Janus Kinase 2 ; genetics ; L-Lactate Dehydrogenase ; blood ; Male ; Middle Aged ; Phosphopyruvate Hydratase ; blood ; Polycythemia Vera ; diagnosis ; therapy ; Prognosis ; Retrospective Studies ; Thrombosis ; Young Adult

No abstract available.
Acute Disease ; Aged ; Bone Marrow/metabolism/pathology ; Female ; Humans ; Janus Kinase 2/genetics ; Leukemia/*complications/therapy ; Mutation, Missense ; Polycythemia Vera/*diagnosis/etiology ; Real-Time Polymerase Chain Reaction ; Remission Induction

No abstract available.
Adult ; Biomarkers, Tumor/genetics ; Bone Marrow/pathology ; Calreticulin/genetics ; Erythropoietin/blood ; Female ; Fusion Proteins, bcr-abl/*genetics ; Hematocrit ; Hemoglobins/analysis ; Humans ; Janus Kinase 2/genetics ; Male ; Middle Aged ; Mutation ; Myeloproliferative Disorders/*diagnosis/genetics ; Polycythemia Vera/*diagnosis/genetics ; Receptors, Thrombopoietin/genetics ; Thrombocythemia, Essential/diagnosis ; World Health Organization