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Meta-Analysis
. 2019 Jun 17;19(1):590.
doi: 10.1186/s12885-019-5764-4.

Systematization of analytical studies of polycythemia vera, essential thrombocythemia and primary myelofibrosis, and a meta-analysis of the frequency of JAK2, CALR and MPL mutations: 2000-2018

Mónica Mejía-Ochoa  1 , Paola Andrea Acevedo Toro  2 , Jaiberth Antonio Cardona-Arias  3
Affiliations
Meta-Analysis

Systematization of analytical studies of polycythemia vera, essential thrombocythemia and primary myelofibrosis, and a meta-analysis of the frequency of JAK2, CALR and MPL mutations: 2000-2018

Mónica Mejía-Ochoa et al. BMC Cancer. .

Abstract

Background: Research into Philadelphia-negative chronic myeloproliferative neoplasms is heterogeneous. In addition, no systematization of studies of polycythemia vera (PV), essential thrombocythemia (ET) or primary myelofibrosis (PMF) have been carried out. The objective of this review is to characterize studies on BCR-ABL1-negative chronic myeloproliferative neoplasms and to compare the frequency of JAK2, MPL and CALR mutations in PV, ET and PMF.

Method: A systematic review of the scientific literature was conducted, as was meta-analysis with an ex-ante selection of protocol, according to phases of the PRISMA guide in three interdisciplinary databases. To guarantee reproducibility in the pursuit and retrieval of information, the reproducibility and methodological quality of the studies were evaluated by two researchers.

Results: Fifty-two studies were included, the majority having been carried out in the United States, China, Brazil and Europe. The frequency of the JAK2V617F mutation ranged from 46.7 to 100% in patients with PV, from 31.3 to 72.1% in patients with ET, and from 25.0 to 85.7% in those with PMF. The frequency of the MPL mutation was 0% in PV, from 0.9 to 12.5% in ET, and from 0 to 17.1% in PMF. The CALR mutation occurred at a frequency of 0.0% in PV, whereas in ET, it ranged from 12.6 to 50%, and in PMF, it ranged from 10 to 100%. The risk of this mutation presenting in PV is 3.0 times that found for ET and 4.0 times that found for PMF.

Conclusion: Given the specificity and reported high frequencies of the JAK2V617F, MPL and CALR mutations in this group of neoplasms, the diagnosis of these diseases should not be made on clinical and hematological characteristics alone but should include genetic screening of patients.

Keywords: Essential thrombocythemia; Meta-analysis; Mutation; Myeloproliferative disorders; Polycythemia vera; Primary myelofibrosis.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Flow-gram of search and selection of articles
Fig. 2
Fig. 2
Absolute frequency of studies by country
Fig. 3
Fig. 3
Evaluation of methodological quality
Fig. 4
Fig. 4
Meta-analysis for the comparison of the frequency of JAK2 mutations in PV compared to ET
Fig. 5
Fig. 5
Forest plot for the comparison of the frequency of JAK2 mutations between PV vs PMF and ET vs PMF, comparison of MPL mutations in ET vs PMF and of CALR mutations in ET vs PMF
See this image and copyright information in PMC

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