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

dc.creatorMejía Ochoa, Mónica
dc.creatorAcevedo Toro, Paola Andrea
dc.creatorCardona Arias, Jaiberth Antonio
dc.date2022-10-07T16:16:48Z
dc.date2022-10-07T16:16:48Z
dc.date2019
dc.date.accessioned2023-08-28T19:56:15Z
dc.date.available2023-08-28T19:56:15Z
dc.identifierMejía-Ochoa M, Acevedo Toro PA, Cardona-Arias JA. 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. BMC Cancer. 2019 Jun 17;19(1):590. doi: 10.1186/s12885-019-5764-4.
dc.identifierhttps://hdl.handle.net/10495/31129
dc.identifier10.1186/s12885-019-5764-4.
dc.identifier1471-2407
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8471176
dc.descriptionABSTRACT : 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.
dc.descriptionCOL0043226
dc.descriptionCOL0088881
dc.format15
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.publisherBMC (BioMed Central)
dc.publisherHematopatologia Molecular
dc.publisherSalud y Sostenibilidad
dc.publisherLondres, Inglaterra
dc.relationBMC Cancer
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by/2.5/co/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.rightshttps://creativecommons.org/licenses/by/4.0/
dc.subjectTrastornos Mieloproliferativos
dc.subjectMyeloproliferative Disorders
dc.subjectPolicitemia Vera
dc.subjectPolycythemia Vera
dc.subjectMutación
dc.subjectMutation
dc.subjectMetaanálisis
dc.subjectMeta-analysis
dc.subjectTrombocitemia Esencial
dc.subjectThrombocythemia, Essential
dc.subjectMielofibrosis Primaria
dc.subjectPrimary Myelofibrosis
dc.titleSystematization 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
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typehttp://purl.org/coar/resource_type/c_2df8fbb1
dc.typehttps://purl.org/redcol/resource_type/ART
dc.typeArtículo de investigación


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