Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk‐stratification, and management

Tefferi, Ayalew; Barbui, Tiziano

doi:10.1002/ajh.24607

Cited by 216 publications

(254 citation statements)

References 111 publications

(132 reference statements)

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“…The identification of JAK2/MPL mutations in the majority of patients led to the development of JAK kinase inhibitors. Although ruxolitinib was recently approved for use in hydroxyurea-resistant PV, its role in routine clinical practice remains controversial (6,(46)(47)(48)(49). For myelofibrosis patients, stem cell transplant is the current treatment of choice for genetically or clinically high-risk disease.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2017

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Abstract. Myeloproliferative neoplasms (MPNs) result from the malignant transformation of a hematopoietic stem-cell (HSC), leading to abnormal amplification and proliferation of myeloid lineages. Identification of the Janus kinase 2 (JAK2) V617F mutation developed the knowledge of Philadelphia-negative (PN)-MPNs, contributing to and influencing the definition of the phenotype and prognostic impact. Considering the lack of Portuguese epidemiological data, the present study intends to characterize the prevalence of the JAK2 mutation in a PN-MPN versus a control Portuguese population. Caucasian Portuguese PN-MPN patients (n=133) and 281 matched control subjects were investigated. No significant differences were identified between the case and control groups concerning age distribution or smoking habits. Pathology distribution was as follows: 60.2% with essential thrombocythemia (ET), 29.3% with polycythemia vera (PV) and 10.5% with primary myelofibrosis (PMF). A total of 75.0% of patients were positive for the presence of the JAK2 V617F mutation. In addition, the prevalence of PV was 87.2%, ET was 73.4% and PMF was 50.0%. The JAK2 V617F mutation is observed in various MPN phenotypes, and has an increased incidence in ET patients and a decreased incidence in PV patients. These data may contribute to improving the knowledge of the pathophysiology of these disorders, and to a more rational and efficient selection of therapeutic strategies to be adopted, notably because most of the patients are JAK2 V617F negative.

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Section: Introductionmentioning

confidence: 99%

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

et al. 2017

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“…[8][9][10][11][12] Testing for JAK2 mutation is also required in patients with recurrent thrombosis receiving anti-vitamin K. 13 A significant prevalence of the presence of this mutation in patients with deep vein thrombosis has not been established.…”

Section: Factorsmentioning

confidence: 99%

Pathogenetic mechanisms of thrombosis in patients with myeloproliferative neoplasm

Popov¹,

Andreescu²,

Vlădăreanu³

et al. 2018

HTIJ

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“…Ten to fifteen percent of MPNs are diagnosed at the time of a thrombotic event. Venous thromboses represent one-third of these events [2].…”

Section: Introductionmentioning

confidence: 99%

Screening for MPN Mutations in Cases of Deep Vein Thrombosis and/or Pulmonary Embolism: What We have learnt from Studies

Ianotto¹

2017

Adv Tech Biol Med

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Myeloproliferative neoplasms (MPN) are chronic myeloid disorders characterized by a high-risk of thrombosis. One-third is in venous vessels. Clinicians who treat patients experiencing thromboses in such vessels know the high rate of cancer in such situation. Many studies have been published concerning the screening for mutations that drive MPNs (mostly JAK2V617F and CALR mutations) in case of deep vein thromboses and/or pulmonary embolism.We reviewed the results of the studies published since 2005 (year of discovery of JAK2V617F, the most frequent of these mutations) and we analyzed the prevalence of mutations among the patients and their characteristics.Sixteen studies have been published on this topic. Of 2907 patients, 39 (1.3%) were positive for JAK2V617F, reaching 2.1% in case of history of recurrence. CALR mutations have not been found in any of the studied situations. Women represent 73.5% of the cases. Patients over the age of 60 account for 76.5% of the cases. Only 10 (29.4%) of the patients have been identified to have MPN despite a median follow-up period of 42 months. All had thrombocytosis or polycythemia at the time of the thrombosis. Nineteen patients experienced thrombotic recurrence, describing JAK2V617F mutation as a pro-thrombotic factor.Screening for JAK2V617F or CALR mutations should not be systematically performed for patients experiencing deep vein thromboses and/or pulmonary embolism because of the low rate of positivity. Attention should perhaps be focused on patients with persistent thrombocytosis or polycythemia who have a higher rate of MPNs. For the other positive cases with no features of MPN, the management is unclear, but a thorough evaluation by a hematologist should be performed, and the patients should be followed for years.

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Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk‐stratification, and management

Cited by 216 publications

References 111 publications

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

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

Pathogenetic mechanisms of thrombosis in patients with myeloproliferative neoplasm

Screening for MPN Mutations in Cases of Deep Vein Thrombosis and/or Pulmonary Embolism: What We have learnt from Studies

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