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1.
Chinese Journal of Hematology ; (12): 107-114, 2022.
Article in Chinese | WPRIM | ID: wpr-929541

ABSTRACT

Objective: To compare clinical and laboratory features between JAK2 exon12 and JAK2 V617F mutated polycythemia vera (PV) . Method: We collected data from 570 consecutive newly-diagnosed subjects with PV and JAK2 mutation, and compared clinical and laboratory features between patients with JAK2 exon12 and JAK2 V617F mutation. Results: 543 (95.3%) subjects harboured JAK2 V617F mutation (JAK2 V617F cohort) , 24 (4.2%) harboured JAK2 exon12 mutations (JAK2 exon12 cohort) , and 3 (0.5%) harboured JAK2 exon12 and JAK2 V617F mutations. The mutations in JAK2 exon12 including deletion (n=10, 37.0%) , deletion accompanied insertion (n=10, 37.0%) , and missense mutations (n=7, 25.9%) . Comparing with JAK2 V617F cohort, subjects in JAK2 exon12 cohort were younger [median age 50 (20-73) years versus 59 (25-91) years, P=0.040], had higher RBC counts [8.19 (5.88-10.94) ×10(12)/L versus 7.14 (4.11-10.64) ×10(12)/L, P<0.001] and hematocrit [64.1% (53.7-79.0%) versus 59.6% (47.2%-77.1%) , P=0.001], but lower WBC counts [8.29 (3.2-18.99) ×10(9)/L versus 12.91 (3.24-38.3) ×10(9)/L, P<0.001], platelet counts [313 (83-1433) ×10(9)/L versus 470 (61-2169) ×10(9)/L, P<0.001] and epoetin [0.70 (0.06-3.27) versus 1.14 (0.01-10.16) IU/L, P=0.002] levels. We reviewed bone marrow histology at diagnosis in 20 subjects with each type of mutation matched for age and sex. Subjects with JAK2 exon12 mutations had fewer loose megakaryocyte cluster (40% versus 80%, P=0.022) compared with subjects with JAK2 V617F. The median follow-ups were 30 months (range 4-83) and 37 months (range 1-84) for cohorts with JAK2 V617F and JAK2 exon12, respectively. There was no difference in overall survival (P=0.422) and thrombosis-free survival (P=0.900) . Conclusions: Compared with patients with JAK2 V617F mutation, patients with JAK2 exon12 mutation were younger, and had more obvious erythrocytosis and less loose cluster of megakaryocytes.


Subject(s)
Adult , Aged , Aged, 80 and over , Humans , Middle Aged , Young Adult , Bone Marrow/pathology , Exons , Janus Kinase 2/genetics , Mutation , Mutation, Missense , Polycythemia Vera/genetics
2.
Journal of Experimental Hematology ; (6): 813-818, 2022.
Article in Chinese | WPRIM | ID: wpr-939693

ABSTRACT

OBJECTIVE@#To explore the relationship between clinical features, peripheral blood cell count, coagulation function, gene mutation and hemorrhagic events and thrombotic events in essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis(PMF) patients.@*METHODS@#Clinical data of 78 patients with ET, PV, and PMF who were admitted to the Second Affiliated Hospital of Chongqing Medical University between September 2019 and August 2020 were retrospectively analyzed. Information about sex, age, gene mutation, peripheral blood cell count, coagulation function, and hemorrhagic and thrombotic events was included, and the influence of these data on the occurrence of hemorrhagic and thrombotic events was estimated.@*RESULTS@#Among the 78 patients with myeloproliferative neoplasms, there were 47 cases of ET, 15 cases of PV, and 16 cases of PMF.A total of 10 patients (12.82%) experienced hemorrhagic events and 27 (34.62%) experienced thrombotic events. Male,patients aged ≥ 60 years, and patients with a JAK2V617F mutation were more likely to experience thrombotic events (P<0.05). Patients with thrombotic events had higher platelet (PLT) counts and fibrinogen (FIB) levels than patients without hemorrhagic-thrombotic events (P<0.05).White blood cell (WBC) count, red blood cell (RBC) count, hemoglobin (HGB) level, prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and international normalized ratio (INR) showed no statistical difference between patients with thrombotic events and patients without hemorrhagic-thrombotic events (P>0.05). There was also no significant difference in the above-mentioned indexes between patients with hemorrhagic events and patients without hemorrhagic-thrombotic events (P>0.05). Among JAK2V617F positive myeloproliferative neoplasm patients, male patients were more likely to have thrombotic events (P<0.05), and patients with thrombotic events had higher platelet counts than those without hemorrhagic-thrombotic events (P<0.05). There was no significant difference in age, white blood cell count, red blood cell count, hemoglobin level, PT, APTT, FIB, TT or INR between patients with thrombotic events and patients without hemorrhagic-thrombotic events (P>0.05).@*CONCLUSION@#Sex, age, JAK2V617F mutation and platelet count have a certain value for predicting thrombosis in patients with myeloproliferative neoplasms.


Subject(s)
Humans , Male , Hemoglobins/genetics , Hemorrhage , Janus Kinase 2/genetics , Mutation , Myeloproliferative Disorders/genetics , Polycythemia Vera/genetics , Retrospective Studies , Thrombocythemia, Essential , Thrombosis
4.
Indian J Pathol Microbiol ; 2011 Jan-Mar 54(1): 117-120
Article in English | IMSEAR | ID: sea-141929

ABSTRACT

The recent discovery of the JAK2 mutations has rekindled interest in the approach to classic BCR/ABL-negative myeloproliferative neoplasms (MPNs) in terms of both diagnostic evaluation and treatment. However, additional clinical, laboratory and histological parameters play a key role to allow diagnosis and subclassification, regardless of whether JAK2 V617F mutation is present or not. Here are two cases which incidentally presented with splenomegaly and moderate leukocytosis, and were diagnosed as MPN-primary myelofibrosis (PMF) in prefibrotic phase and polycythemia vera (PV), respectively, using revised World Health Organization (WHO) 2008 criteria.


Subject(s)
Biopsy , Bone Marrow Neoplasms/diagnosis , Bone Marrow Neoplasms/genetics , Bone Marrow Neoplasms/pathology , Female , Histocytochemistry , Humans , Janus Kinase 2/genetics , Male , Microscopy , Middle Aged , Neoplasms , Polycythemia Vera/diagnosis , Polycythemia Vera/genetics , Polycythemia Vera/pathology , Primary Myelofibrosis/diagnosis , Primary Myelofibrosis/genetics , Primary Myelofibrosis/pathology , Splenomegaly/diagnosis , Splenomegaly/pathology , World Health Organization
5.
Medical Sciences Journal of Islamic Azad University. 2010; 20 (1): 29-35
in Persian | IMEMR | ID: emr-105434

ABSTRACT

Detection of JAK2V617F mutation was widely used in the diagnosis and classification of myeloproliferative neoplasms. In this study, frequency of JAK2V617F mutation among Iranian patients with polycythemia vera [PV], essential thrombocythemia [ET] and primary myelofibrosis [PMF] was studied. In this basic study, blood samples of 174 patients with polycythemia vera [n=57], essential thrombocythemia [n=84] and primary myelofibrosis [n=33] were evaluated for JAK2V617F mutation. Genomic DNA was extracted from peripheral blood. After quality control of extracted DNA, the JAK2-V617F mutation was analyzed using allele-specific PCR. All PCR products were analyzed by polyacrylamide gel [5%] electrophoresis and silver staining. One hundred and eleven out of 174 patients [63.8%] were positive for the presence of the JAK2V617F mutation. Frequency of mutation was 82% [47/57] in PV, 57% [48/84] in ET and 48% [16/33] in PMF. This study showed that detection of JAK2-V617F mutation using allele-specific PCR lead to better diagnosis and treatment of Iranian patients with different MPNs


Subject(s)
Humans , Mutation , Myeloproliferative Disorders/genetics , Polycythemia Vera/genetics , Thrombocythemia, Essential/genetics , Primary Myelofibrosis/genetics , Alleles
6.
The Korean Journal of Laboratory Medicine ; : 474-476, 2010.
Article in English | WPRIM | ID: wpr-120818

ABSTRACT

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.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Amino Acid Substitution , Asian People/genetics , Exons , Janus Kinase 2/genetics , Mutation , Polycythemia Vera/genetics , Receptors, Thrombopoietin/genetics , Republic of Korea , Sequence Analysis, DNA , Thrombocythemia, Essential/diagnosis
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