scholarly journals Prevalence of the Janus kinase 2 V617F mutation in Philadelphia-negative myeloproliferative neoplasms in a Portuguese population

2017 ◽  
Vol 7 (4) ◽  
pp. 370-376 ◽  
Author(s):  
Ana Paula Azevedo ◽  
Susana N. Silva ◽  
Alice Reichert ◽  
Fernando Lima ◽  
Esmeraldina Júnior ◽  
...  
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Janus Kinase ◽  
Janus Kinase 2 ◽  
Portuguese Population ◽  
V617f Mutation

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 Megakaryocytic morphology in Janus kinase 2 V617F positive myeloproliferative neoplasm

2017 ◽  
Vol 06 (02) ◽  
pp. 075-078
Author(s):  
Shuchi Ghai ◽  
Sharada Rai
Keyword(s):  
Bone Marrow ◽  
Myeloproliferative Neoplasms ◽  
Myeloproliferative Neoplasm ◽  
Jak2 V617f ◽  
Janus Kinase ◽  
Jak2 V617f Mutation ◽  
Fisher Exact Test ◽  
Janus Kinase 2 ◽  
Bone Marrow Biopsies ◽  
V617f Mutation

Abstract Context: Alterations in megakaryocyte morphology are the hallmark of myeloproliferative neoplasms (MPNs). These neoplasm are also associated with Janus kinase 2 (JAK2) V617F mutation in nearly 95% patients with polycythemia vera (PV), 40% patients of essential thrombocythemia (ET) and 50% patients of myelofibrosis (MF). The utility of megakaryocyte morphology in these disorders in correlation with JAK2 V617F remains unresolved. Aims: The aim of the study was to assess the morphology of megakaryocytes in bone marrow aspirates (BMAs) and bone marrow biopsies of patients of BCR-ABL negative MPNs with JAK2 V617F mutation. Settings and Design: This study was a retrospective and prospective, hospital-based study undertaken for a period ranging from January 2011 to April 2015. Subjects and Methods: Assessment of morphological features of megakaryocytes in 15 BMAs and their respective biopsies which included seven cases of PV, three cases of ET, and five cases of MF with JAK2 V617F mutation. Statistical Analysis Used: Chi-square test and Fisher exact test were used to compare the different features of megakaryocytes. Software version SPSS 13.0 was used. Results: Megakaryocytes in ET were found to have characteristically large size with staghorn multinucleated nuclei and exhibiting large amount of cytoplasm. MF showed dense clustering of megakaryocytes with staghorn nucleus along with sinusoidal dilatation and intrasinusoidal hematopoiesis. PV showed loose and dense clustering of megakaryocytes with a predominance of cloud-like nuclei. Few of the megakaryocytic morphologic features showed overlap between MF and PV and between ET and early MF. Conclusions: Megakaryocytic morphology can aid in the accurate diagnosis of the different subcategories of MPNs. This would help in categorization of clinically suspicious patients of JAK2 V617F negative patients.

scholarly journals Serum Has Higher Proportion of Janus Kinase 2 V617F Mutation Compared to Paired EDTA-Whole Blood Sample: A Model for Somatic Mutation Quantification Using qPCR and the 2-∆∆Cq Method

Diagnostics ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. 153 ◽  
Author(s):  
Gustavo Barcelos Barra ◽  
Ticiane Henriques Santa Rita ◽  
Ana Luisa Santa Cruz Almeida ◽  
Rafael Henriques Jácomo ◽  
Lídia Freire Abdalla Nery
Keyword(s):  
Whole Blood ◽  
Mutant Allele ◽  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Absolute Quantification ◽  
Janus Kinase ◽  
Molecular Diagnostic ◽  
Janus Kinase 2 ◽  
Cq Method ◽  
V617f Mutation

Detection of the Janus Kinase-2 (JAK2) V617F mutation is a diagnostic criterion for myeloproliferative neoplasms, and high levels of mutant alleles are associated with worse outcomes. This mutation is usually tested on blood DNA by allele-specific qPCR (AS-qPCR) and measured using absolute quantification. However, some automated DNA extractions co-extracts of PCR inhibitors from blood and qPCR absolute quantification need increased efforts in order to maintain standard curves. JAK2 V617F can also be detected in serum using droplet digital PCR (ddPCR), a specimen with less inhibitors and favorable to automated extractions, but ddPCR instruments are not wide available as qPCR thermocyclers. Here, we evaluate whether JAK2 V617F could be accurately quantified by AS-qPCR using the 2-∆∆Cq method on blood DNA and validate the assay using gold-standard molecular diagnostic protocols. Next, we apply the validated method to assess if the mutation could be reliably detected/quantified in serum. JAK2 V617F could be quantified by AS-qPCR using the 2-∆∆Cq method—the assay was highly accurate (bias of 1.91%) compared to a commercial kit, highly precise (total CV% of 0.40%, 1.92%, 11.12% for samples with 93%, 54%, and 2.5% of mutant allele), highly sensitive (limit of detection of 0.15%), and demonstrated a linear detection response from 1.1% to 99.9%. Serum presented a higher mutant allele burden compared to the paired whole blood (mean of 4%), which allows for an increased JAK2 mutant detection rate and favors increased JAK2 V617F high-throughput analysis.

scholarly journals Skewed ratio between type 1 and type 2 calreticulin mutations in essential thrombocytosis patients with concomitant Janus kinase 2 V617F mutation

2018 ◽  
Vol 68 ◽  
pp. 62-65 ◽  
Author(s):  
Laura M. Haunstrup ◽  
Lene H. Ebbesen ◽  
Maria Hansen ◽  
Marianne T. Severinsen ◽  
Anni Aggerholm
Keyword(s):  
Janus Kinase ◽  
Janus Kinase 2 ◽  
Essential Thrombocytosis ◽  
V617f Mutation

scholarly journals Complex molecular genetic diagnostic algorithm in the diagnosis of myeloproliferative neoplasms

2014 ◽  
Vol 155 (52) ◽  
pp. 2074-2081 ◽  
Author(s):  
Tünde Krähling ◽  
Katalin Balassa ◽  
Nóra Meggyesi ◽  
András Bors ◽  
Judit Csomor ◽  
...  
Keyword(s):  
Triple Negative ◽  
Myeloproliferative Neoplasms ◽  
Philadelphia Chromosome ◽  
Molecular Techniques ◽  
Janus Kinase ◽  
Driver Mutations ◽  
Similar Distribution ◽  
Janus Kinase 2 ◽  
Chain Reactions ◽  
Thrombopoietin Receptor

Introduction: Mutations in Janus kinase 2, calreticulin and thrombopoietin receptor genes have been identified in the genetic background of Philadelphia chromosome negative, “classic” myeloproliferative neoplasms. Aim: The aim of the authors was to identify driver mutations in a large myeloproliferative cohort of 949 patients. Method: A complex array of molecular techniques (qualitative and quantitative allele-specific polymerase chain reactions, fragment analyzes, high resolution melting and Sanger sequencing) was applied. Results: All 354 patients with polycythemia vera carried Janus kinase 2 mutations (V617F 98.6%, exon 12: 1.4%). In essential thrombocythemia (n = 468), the frequency of V617F was 61.3% (n = 287), that of calreticulin 25.2% (n = 118), and that of thrombopoietin receptor mutations 2.1% (n = 10), while 11.3% (n = 53) were triple-negative. Similar distribution was observed in primary myelofibrosis (n = 127): 58.3% (n = 74) V617F, 23.6% (n = 30) calreticulin, 6.3% (n = 8) thrombopoietin receptor mutation positive and 11.8% (n = 15) triple-negative. Conclusions: The recent discovery of calreticulin gene mutations led to definite molecular diagnostics in around 90% of clonal myeloproliferative cases. Orv. Hetil., 2014, 155(52), 2074–2081.

scholarly journals Vitamin D Deficiency and Janus kinase 2 V617F Mutation Status in Essential Thrombocythemia and Polycythemia Vera

2020 ◽  
Vol 27 (1) ◽  
pp. 70-77
Author(s):  
Aysun Şentürk Yikilmaz ◽  
◽  
Sema Akinci ◽  
Şule Mine Bakanay ◽  
İmdat Dilek ◽  
...  
Keyword(s):  
Vitamin D ◽  
Polycythemia Vera ◽  
Vitamin D Deficiency ◽  
Essential Thrombocythemia ◽  
Janus Kinase ◽  
Janus Kinase 2 ◽  
Mutation Status ◽  
V617f Mutation

scholarly journals Janus kinase 2 V617F mutation and thrombotic events in Behcet’s disease: The Alexandria experience

2016 ◽  
Vol 3 (2) ◽  
pp. 73-74 ◽  
Author(s):  
Fahd Adeeb ◽  
Manal Tayel ◽  
Dalal M El Kaffash ◽  
Khairunnisa Mohd Idris ◽  
Muhammad Fikri Abu Hassan ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Janus Kinase ◽  
Janus Kinase 2 ◽  
Behcet's Disease ◽  
V617f Mutation
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