Influence of JAK2V617F allele burden on
                                                  clinical phenotype of polycythemia vera patients:
                                                  A study from India

Sazawal, Sudha; Singh, Kanwaljeet; Chhikara, Sunita; Chaubey, Rekha; Mahapatra, Manoranjan; Saxena, Renu

doi:10.4103/sajc.sajc_161_18

Cited by 9 publications

(17 citation statements)

References 22 publications

(40 reference statements)

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“…10 14 However, our results are not in line with Sazawal et al in Indian population. 12 However, the rising trend in leukocyte count was observed, though not statistically significant as per study by Sazawal et al 12…”

Section: Discussionmentioning

confidence: 76%

“…Correlation of JAK2V617F with thrombosis and hematological parameters is documented in the literature with variable results. 9 10 11 12…”

Section: Discussionmentioning

confidence: 99%

“…In comparison to few studies which showed raised total leukocyte count (TLC) in JAK2V617F mutation-positive patients as compared with JAK2V617F-negative patients, other studies show no correlation of these factors with JAK2V617F mutational status. 12…”

Section: Introductionmentioning

confidence: 99%

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Correlation of Thrombosis and Clinicohematological Parameters with JAK2V617F Mutation in Philadelphia-Negative CMPNs: A Study from India

et al. 2022

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Objective Philadelphia-negative chronic myeloproliferative neoplasms (CMPNs), which include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are characterized by the presence of JAK2V617F (exon 14) mutation, and this occurs in 90 to 95% cases of PV and 50 to 60% cases of ET and PMF. Still, this is a matter of debate regarding the correlation of this mutation with thrombosis and clinicohematological parameters in CMPNs. So, we conducted this study to ascertain the association of JAK2V617F mutation with thrombotic complications and clinicohematological parameters of these patients. Materials and Methods This prospective and retrospective study was conducted during 2018 to 2019 at the Department of Laboratory Sciences and Molecular Medicine of a tertiary care hospital, and 160 CMPN patients were enrolled. Complete hemogram was done and DNA was extracted, followed by real-time qualitative polymerase chain reaction to check for JAK2V617F mutation. This mutation was then correlated with complications, mainly thrombosis, hematological parameters, and clinical parameters such as age and splenomegaly. Results Among 160 CMPN patients, 60 were females and 100 were males, with male to female ratio of 1:0.6, and age range of 27 to 85 years. Total 91 (56.9%) patients were JAK2V617F positive and the remaining 69 (43.1%) were negative for this mutation. We observed statistically significant correlation of leukocyte count, splenomegaly, and thrombosis in JAK2V617F-mutated patients as compared to unmutated patients. Conclusion This study emphasizes the importance of JAK2V617F mutation in CMPNs and stresses on its association with clinical, hematological phenotype, and thrombotic complications, which may open new horizons in prognostication and management protocol.

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Section: Discussionmentioning

confidence: 76%

“…Correlation of JAK2V617F with thrombosis and hematological parameters is documented in the literature with variable results. 9 10 11 12…”

Section: Discussionmentioning

confidence: 99%

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Correlation of Thrombosis and Clinicohematological Parameters with JAK2V617F Mutation in Philadelphia-Negative CMPNs: A Study from India

et al. 2022

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“…[19], [33]. These include prognostic variables such as haemoglobin concentration, white blood cell (WBC) counts, platelet counts and spleen size [26], [34] For instance higher V617F allele burden in PV patients corresponds to a pronounced myeloproliferative phenotype with increased haemoglobin levels [35]. Studies have revealed a direct correlation of JAK2V617F allele burden with activation parameters favouring thrombosis and associations of JAK2V617F allele burden with thrombotic risk [36], [37].…”

Section: Jak2 Allele Burden and Phenotypementioning

confidence: 99%

Review: JAK2V617F Allele Burden in Diagnosis and Therapeutic Monitoring of Myeloproliferative Neoplasms

Dharmawickreme

Witharana²

2023

EJMED

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Characterized by overproduction of differentiated cells of myeloid lineage, polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are Philadelphia chromosome negative myeloproliferative neoplasms (MPNs). Found in 95% of PV patients and 50-60% of ET and PMF patients, the JAK2V617F mutation is the most common molecular abnormality shared by the three MPN phenotypes. Although the JAK2 mutation is recommended for diagnosis of MPNs by the World Health Organization (WHO), its presence alone is insufficient to discriminate among the 3 subtypes. This implication of single mutation (JAK2V617F) in all three MPN phenotypes has long been an objective under question and several studies investigating on the gene dosage hypothesis have discovered the promising role of the JAK2V617F allele burden in MPN phenotype. The significant differences of the JAK2V617F allele burden in PV, ET and PMF patients as well its associations with specific clinical and haematological characteristics bear high utility in diagnosis, prognosis, and therapeutic monitoring. Although great strides have been achieved with the use of qPCR and new molecular biology techniques in allele burden quantification, addressing the deficits in the current understandings and further improvement of technology will be highly beneficial. Therefore, we have reviewed PubMed database from 2005 to 2022. Using keywords such as JAK2V617F mutation, Allele burden, Myeloproliferative neoplasms etc. and the present review discusses the significance of JAK2V617F allele burden in diagnosis and therapeutic monitoring of myeloproliferative neoplasms.

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“…However, conventional risk factors are not PV-specific. In addition, only JAK2V617F variant allele frequency (VAF) > 50% has been associated with a higher thrombotic risk and bone marrow fibrosis in PV [ 11 , 12 ]. Aggressive hematocrit control <45% and use of cytoreductive treatment when required have been shown to reduce the number of thrombotic events and substantially improve survival [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

A Specific Host/Microbial Signature of Plasma-Derived Extracellular Vesicles Is Associated to Thrombosis and Marrow Fibrosis in Polycythemia Vera

Barone

Ricci

et al. 2021

Cancers

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Polycythemia vera is a myeloproliferative neoplasm with increased risk of thrombosis and progression to myelofibrosis. However, no disease-specific risk factors have been identified so far. Circulating extracellular vesicles (EVs) are mostly of megakaryocyte (MK-EVs) and platelet (PLT-EVs) origin and, along with phosphatidylethanolamine (PE)-EVs, play a role in cancer and thrombosis. Interestingly, circulating microbial components/microbes have been recently indicated as potential modifiers of inflammation and coagulation. Here, we investigated phenotype and microbial DNA cargo of EVs after isolation from the plasma of 38 patients with polycythemia vera. Increased proportion of MK-EVs and reduced proportion of PLT-EVs identify patients with thrombosis history. Interestingly, EVs from patients with thrombosis history were depleted in Staphylococcus DNA but enriched in DNA from Actinobacteria members as well as Anaerococcus. In addition, patients with thrombosis history had also lower levels of lipopolysaccharide-associated EVs. In regard to fibrosis, along with increased proportion of PE-EVs, the EVs of patients with marrow fibrosis were enriched in DNA from Collinsella and Flavobacterium. Here, we identified a polycythemia-vera-specific host/microbial EV-based signature associated to thrombosis history and marrow fibrosis. These data may contribute to refining PV prognosis and to identifying novel druggable targets.

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Influence of JAK2V617F allele burden on clinical phenotype of polycythemia vera patients: A study from India

Abstract: Background: Elevated JAK2V617F allele burden is associated with enhanced expression of downstream target genes in Philadelphia negative chronic myeloproliferative neoplasms (CMPNs) which include PV, ET & PMF. Previous studies have shown the impact of JAK2V617F … Show more

Cited by 9 publications

References 22 publications

Correlation of Thrombosis and Clinicohematological Parameters with JAK2V617F Mutation in Philadelphia-Negative CMPNs: A Study from India

Correlation of Thrombosis and Clinicohematological Parameters with JAK2V617F Mutation in Philadelphia-Negative CMPNs: A Study from India

Review: JAK2V617F Allele Burden in Diagnosis and Therapeutic Monitoring of Myeloproliferative Neoplasms

A Specific Host/Microbial Signature of Plasma-Derived Extracellular Vesicles Is Associated to Thrombosis and Marrow Fibrosis in Polycythemia Vera

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