scholarly journals Detection of JAK2 V617F mutation increases the diagnosis of myeloproliferative neoplasms

2014 ◽  
Vol 9 (2) ◽  
pp. 735-738 ◽  
Author(s):  
SHU-PENG ZHANG ◽  
HUI LI ◽  
REN-SHENG LAI
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

scholarly journals CRISPR/Cas12a-Based Ultrasensitive and Rapid Detection of JAK2 V617F Somatic Mutation in Myeloproliferative Neoplasms

Biosensors ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 247
Author(s):  
Miaomiao Chen ◽  
Chunhua Zhang ◽  
Zhiqing Hu ◽  
Zhuo Li ◽  
Menglin Li ◽  
...  
Keyword(s):  
Detection System ◽  
Myeloproliferative Neoplasms ◽  
Cost Effective ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
Minimum Detectable Concentration ◽  
Lateral Flow Strip ◽  
Whole Process ◽  
Detectable Concentration ◽  
V617f Mutation

The JAK2 V617F mutation is a major diagnostic, therapeutic, and monitoring molecular target of Philadelphia-negative myeloproliferative neoplasms (MPNs). To date, numerous methods of detecting the JAK2 V617F mutation have been reported, but there is no gold-standard diagnostic method for clinical applications. Here, we developed and validated an efficient Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR associated protein 12a (Cas12a)-based assay to detect the JAK2 V617F mutation. Our results showed that the sensitivity of the JAK2 V617F/Cas12a fluorescence detection system was as high as 0.01%, and the JAK2 V617F/Cas12a lateral flow strip assay could unambiguously detect as low as 0.5% of the JAK2 V617F mutation, which was much higher than the sensitivity required for clinical application. The minimum detectable concentration of genomic DNA achieved was 0.01 ng/μL (~5 aM, ~3 copies/μL). In addition, the whole process only took about 1.5 h, and the cost of an individual test was much lower than that of the current assays. Thus, our methods can be applied to detect the JAK2 V617F mutation, and they are highly sensitive, rapid, cost-effective, and convenient.

Evaluation of the JAK2 V617F gene mutation in myeloproliferative neoplasms cases: a one-center study from Eastern Anatolia

2019 ◽  
Vol 44 (4) ◽  
pp. 492-498
Author(s):  
Gonca Gulbay ◽  
Elif Yesilada ◽  
Mehmet Ali Erkurt ◽  
Harika Gozukara Bag ◽  
Irfan Kuku ◽  
...  
Keyword(s):  
Blood Cell ◽  
Essential Thrombocythemia ◽  
Myeloproliferative Neoplasms ◽  
Hematological Parameters ◽  
Jak2 V617f ◽  
Primary Myelofibrosis ◽  
Myeloproliferative Disorders ◽  
Jak2 V617f Mutation ◽  
V617f Mutation ◽  
The Difference

AbstractObjectiveDetection ofJAK2V617F in myeloproliferative neoplasms (MPNs) is very important in both diagnosis and disease progression. In our study, we investigated the frequency ofJAK2V617F mutation in patients with myeloproliferative disorders.MethodsWe retrospectively reviewed the records of 720 patients (174 females and 546 males) who were tested for JAK2 V617F mutation from January 2007 to December 2017.ResultsIn our patients were determined 22.6%JAK2V617F mutation. 33.3% in women, 19.2% in men have been positive forJAK2V617F mutation. In our studyJAK2V617F present in 48.6% of essential thrombocythemia, 80.5% of polycythemia rubra vera (PV), 47.5% of primary myelofibrosis, 10% of MPNs, unclassifiable, 0.8% of others. We also investigated the difference in hematological parameters [white blood cell, hemoglobin (Hb), hematocrit (HCT), red blood cell distribution widths (RDW) and platelets count (PLT)] betweenJAK2V617F positive andJAK2V617F negative patients.ConclusionsInvestigation of the JAK2 V617F mutation is very important in cases of MPNs. In our study JAK2 V617F mutation was higher in PV, essential thrombocythemia, and primary myelofibrosis patients. However, there were significant differences in Hb, HCT, RDW and PLT levels in mutation-positive patients.

Analysis of JAK2 V617F Mutation and Its Clinical Significance in Patients with Thrombocythemia and Other Myeloproliferative Neoplasms in Chinese

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4687-4687
Author(s):  
Yue Xu ◽  
Changxin Yin ◽  
Han He ◽  
Lingling Shu ◽  
Fuqun Wu ◽  
...  
Keyword(s):  
Polycythemia Vera ◽  
Essential Thrombocythemia ◽  
Conflicts Of Interest ◽  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
Jak2 Mutation ◽  
Western Countries ◽  
Arms Pcr ◽  
V617f Mutation

Abstract Abstract 4687 JAK2 mutation is commonly found in Philadelphia-negative myeloproliferative neoplasms (MPNs). In Western countries, this mutation is found in approximately 96 percent of people with polycythemia vera, half of individuals with essential thrombocythemia or primary myelofibrosis. We used the method of amplification refractory mutation PCR (ARMS-PCR) to investigate MPN patients in China. We focused our study on patients with essential thrombocythemia (ET). ARMS-PCR was used to detect JAK2 V617F mutation in the bone barrow (BM) or peripheral blood of 37 MPN patients, which consisting of 7 ET, 5 polycythemia vera (PV), 5 chronic myeloid leukemia (CML), 5 chronic idiopathic myelofibrosis (CIMF), as well as 15 suspected MPNs. 17 cases of JAK2 V617F mutation (45.9%) were found in 37 patients, including 4 ET (57.1%), 4 PV (80.0%), 3 CIMF (60.0%), 6 suspected MPNs (40.0%). We did not find JAK2 V617F in the patients with CML. Our results indicated that the frequency of JAK2 V617F mutation in bcr/abl-negative MPNs in Chinese is similar to that in MPN patients in Western countries. At the same time, ARMS-PCR can distinguish the mutation is heterozygous or homozygous. Most patients were heterozygous for JAK2 but only a few were homozygous. In conclusion, our study showed that JAK2 V617F mutation frequency in Chinese MPN patients is similar to that in patients with this disorder in the West. It is the major molecular genetic abnormality in bcr-abl negative MPN and it can be used for diagnosis of MPN in China. Disclosures: No relevant conflicts of interest to declare.

Leukocytosis Can Predict Thrombotic Events in Myelofibrosis

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 5191-5191
Author(s):  
Laura Coutinho Vassalli ◽  
Emilia Carolina Malafaia ◽  
Maria L. Chauffaille ◽  
Daniella Kerbauy
Keyword(s):  
Polycythemia Vera ◽  
Blood Cells ◽  
Myeloproliferative Neoplasms ◽  
Thrombotic Event ◽  
White Blood Cells ◽  
Jak2 V617f ◽  
The Other ◽  
Jak2 V617f Mutation ◽  
Increased Risk ◽  
V617f Mutation

Abstract Thrombotic events are the main complication of Philadelphia-negative chronic myeloproliferative neoplasms (MPN). In polycythemia vera (PV) and essential thrombocythemia (ET), risk factors for thrombosis are well established, such as age greater than 60 years and previous thrombosis. However, the role of JAK2 V617F mutation and leukocytosis at diagnosis as risk factor for thrombosis is still controversial. Our aim was to identify factors related to the risk for thrombotic events in the studied population.This study is a retrospective non-interventional cohort. All of the analyses were performed using the database of 142 patients with MPN regularly followed at the Hematology Division (at UNIFESP-SP) from 1992 to 2014. Diagnosis was established according to WHO criteria. We analyzed the JAK2 V617F mutation, hemoglobin (g/dL), hematocrit (%), white blood cells (x109/L) and platelets (x109/L) at the diagnosis and DIPSS-Plus risk score (International Working Group for Myelofibrosis Research and Treatment, 2009). These variables were associated with thrombotic event at any time.Of the 142 patients, 54 had diagnosis of PMF, 28 of PV, 33 of ET and 27 of post-essential thrombocythaemic myelofibrosis (post ET MF) or post-polycythaemic myelofibrosis (post-PV MF). This last group was included in myelofibrosis group for statistical purposes. Thrombotic events were more frequent in PV patients (39.2%), followed by ET (33.3%), and PMF (20.9%). From those which JAK2 mutation was obtained, it was positive in 92.4% of PV patients, 62% of PMF and 50% of ET. In none of the three groups, the presence of JAK2 V617F mutation was related to increased risk of thrombosis. In myelofibrosis, leukocytosis was higher among thrombotic patients (median of 13.7 in thrombotic group versus 9.7x 109/L; p 0.0379). None of the other parameters, hemoglobin, hematocrit, platelets and DIPSS-Plus were statistically significant. In ET, the hemoglobin level at diagnosis was significantly higher in the presence of thrombosis (mean of 14.57 in thrombotic group against 13.03 g/dL in the non-thrombotic one, p 0.0428). The other parameters, hematocrit, white blood cells and platelets were not relevant. The median WBC in the thrombotic group was 9.4 and in the non-thrombotic one 9.3 x109/L. Finally, in polycythemia vera, none of the variables were related to thrombosis. Among the studied population, leukocytosis was increased in patients with thrombotic event in MF. Thus, monitoring leukocyte count in MF is essential to predict thrombosis risk and should be further studied in order to define therapeutic goals in these patients. Disclosures No relevant conflicts of interest to declare.

The Evaluation of Cardiac Disorders and Systemic Hypertension in JAK2 V617F Positive Patients at a Multicenter Institution

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 5560-5560
Author(s):  
Abuzar Moradi Tuchayi ◽  
Sid Hemant Sheth ◽  
Roy E. Smith
Keyword(s):  
Risk Factors ◽  
Atrial Fibrillation ◽  
Myeloproliferative Neoplasms ◽  
Case Series ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
Systemic Hypertension ◽  
P Value ◽  
Cardiac Disorders ◽  
V617f Mutation

Abstract INTRODUCTION: Myeloproliferative neoplasms (MPN) represent a significant risk for arterial and venous thrombosis. The JAK2 V617F mutation is an acquired mutation common in patients with polycythemia vera and essential thrombocythemia. Studies have shown that both cardiovascular disorders and JAK2 V617F mutation are independent risk factors for thrombosis in MPN. Additionally in JAK2 V617F transgenic mice, there is reported association of cardiac hypertrophy and myeloproliferative neoplasms. However, there is limited clinical data regarding which cardiovascular risk factors are associated with JAK2 V617F mutations. Our study evaluated cardiac disorders in patients with and without JAK2 V617F mutation, and compared arterial and venous thrombosis rates between the two groups. METHODS: We performed a retrospective case series study at our multiinstitutional center. Demographic information was collected of patients who were evaluated for JAK2 V617F mutation from 2005 to 2014. 34 patients were female and 35 patients were male. Mean age was 64 .Cardiac disorders were characterized as coronary artery disease (CAD), atrial fibrillation (Afib), left heart failure (LHF), myocardial infarction (MI), and dysrhythmia (DYS) other than Afib. In total, thirty-four patients were JAK2 V617F positive while thirty-five patients were JAK2 V617F negative. Data was analyzed by SPSS software version 11.5 . We used pearson chi square test to compare the incidence of cardiac disorders and systemic hypertension (HTN) between two groups. Two tailed p-value <0.05 was considered statistically significant. RESULTS: 34 patients were female and 35 patients were male. Mean age was 64 .Baseline characteristics including mean age and gender were not significantly different between two groups. In JAK2 V617F positive patients, there was a statistically significant higher incidence of systemic hypertension and atrial fibrillation. The remaining characteristics were not significant. Additionally, we found no difference in rates of arterial and venous thrombotic events between two groups. We did not find any association between JAK2 V617F mutation and deep vein thrombosis (p= 0.154), stroke (p=0.289), pulmonary embolisms (p=0.538), and peripheral arterial disease (p=0. 572). Table P- VALUE JAK2 V617F MUTATION CAD MI LHF AFIB HTN DYS 0.216 0.538 0.289 *0.018* *0.012* 0.289 CONCLUSION: We identified systemic hypertension (p=0.012) and atrial fibrillation (p=0.018) to be strongly associated with JAK2 V617F mutation. This association has not been reported so far. Due to the retrospective nature of this case series, we are unable to determine whether there is a causal relationship between the presence of JAK2 V617F mutation and systemic hypertension and/or Afib. Further investigation is necessary to determine whether there is a causal relationship between the presence of JAK2 V617F mutation and systemic hypertension and/or Afib. Disclosures No relevant conflicts of interest to declare.

Should We Screen for Janus Kinase 2 V617F Mutation in Cerebral Venous Thrombosis?

2017 ◽  
Vol 44 (3-4) ◽  
pp. 97-104 ◽  
Author(s):  
Matthias Lamy ◽  
Paola Palazzo ◽  
Pierre Agius ◽  
Jean Claude Chomel ◽  
Jonathan Ciron ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Cerebral Venous Thrombosis ◽  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Janus Kinase ◽  
Jak2 V617f Mutation ◽  
Janus Kinase 2 ◽  
Jak2 Mutation ◽  
Venous Thromboembolic Events ◽  
V617f Mutation

Background: The presence of Janus Kinase 2 (JAK2) V617F mutation represents a major diagnostic criterion for detecting myeloproliferative neoplasms (MPN) and even in the absence of overt MPN, JAK2 V617F mutation is associated with splanchnic vein thrombosis. However, the actual prevalence and diagnostic value of the JAK2 V617F mutation in patients with cerebral venous thrombosis (CVT) are not known. The aims of this study were to assess the prevalence of JAK2 V617F mutation in a large group of consecutive CVT patients, to detect clinical, biological, and radiological features associated with the mutation, and to determine the long-term venous thrombosis recurrence rate in CVT patients with JAK2 mutation but without overt MPN in order to recommend the best preventive treatment. Methods: This was a prospective study conducted on consecutive patients with a first-ever radiologically confirmed CVT. JAK2 V617F mutation analysis was assessed in all the study subjects. JAK2 V617F-positive patients were followed up to detect new venous thrombotic events. Results: Of the 125 included subjects, 7 were found to have JAK2 V617F mutation (5.6%; 95% CI 2.3-11.2). Older age (p = 0.039) and higher platelet count (p = 0.004) were independently associated with JAK2 V617F positivity in patients without overt MPN. During a mean follow-up period of 59 (SD 46) months, 2 JAK2 V617F-positive patients presented with 4 new venous thromboembolic events. Conclusions: Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.

scholarly journals JAK2-tree: a simple CBC-based decision rule to guide appropriate JAK2 V617F mutation testing

2018 ◽  
Vol 72 (2) ◽  
pp. 172-176 ◽  
Author(s):  
Etienne Mahe ◽  
Kasper Mønsted Pedersen ◽  
Yunus Çolak ◽  
Stig Egil Bojesen ◽  
Tarah Lynch ◽  
...  
Keyword(s):  
Decision Rule ◽  
Clinical Laboratory ◽  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Clinical Decision ◽  
Jak2 V617f Mutation ◽  
Resource Utilisation ◽  
General Population Study ◽  
Cell Counts ◽  
V617f Mutation

AimsThe JAK2 V617F mutation is highly recurrent in many of the myeloproliferative neoplasms, a molecular variant that can be easily detected using sensitive and minimally invasive techniques. Given the ease of JAK2 V617F testing, this test may be improperly requested for the purposes of patient ‘screening’ and to optimise laboratory resource utilisation, it behooves clinicians and laboratorians to perform JAK2 V617F testing only when most appropriate.MethodsTo assist with the screening of patients being considered for JAK2 V617F testing, we developed a clinical decision rule, “JAK2-tree”, which can be easily applied to basic CBC parameters (haemoglobin, platelet and white blood cell counts).ResultsWe tested JAK2-tree on two independent datasets, one an unselected population-based sample (the Copenhagen General Population Study) and the other an historical clinical laboratory referral set, with sensitivities for JAK2 V617F detection of 91% and 94%, respectively. As applied to the historical laboratory referral dataset, moreover, the JAK2-tree algorithm would have reduced JAK2 V617F testing volume over the period of evaluation by 15%.ConclusionsOur work supports a simple decision-tree-based screening approach to optimize the selection of patients most appropriate for JAK2 V617F testing.

scholarly journals Allelic Expression Imbalance of JAK2 V617F Mutation in BCR-ABL Negative Myeloproliferative Neoplasms

PLoS ONE ◽  
2013 ◽  
Vol 8 (1) ◽  
pp. e52518 ◽  
Author(s):  
Hye-Ran Kim ◽  
Hyun-Jung Choi ◽  
Yeo-Kyeoung Kim ◽  
Hyeoung-Joon Kim ◽  
Jong-Hee Shin ◽  
...  
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Allelic Expression ◽  
Jak2 V617f Mutation ◽  
Allelic Expression Imbalance ◽  
V617f Mutation
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