Frecuencia de la mutación JAK2 V617F en pacientes con neoplasias mieloproliferativas en SOLCA-Cuenca en el periodo 2015–2019

Abstract

BACKGROUND Myeloproliferative neoplasms are associated with haematological clonal tumors originating from pathogenetic variants and cell growth regulatory genes; that is why in 2016 the World Health Organization introduced the detection of the JAK2 V617F mutation as one of the main diagnostic criteria for polycythemia vera, primary myelofibrosis and essential thrombocythemia. GENERAL OBJETIVE To determine the frequency of the JAK2 V617F mutation in patients with Myeloproliferative Neoplasms in SOLCA-Cuenca in the period 2015-2019. METHODOLOGY Retrospective descriptive study, in which data was analyzed and collected from the medical records of patients who underwent the JAK2 V617F mutation test at the SOLCA-Cuenca Cancer Institute between 2015 and 2019, taking into account variables such as: age, sex, residence and type of myeloproliferative neoplasia, to later determine frequencies and dependency relationships between variables. RESULTS A total of 108 patients were registered, of which 38.9% had a diagnosis of myeloproliferative neoplasia, these patients were distributed in: 64.29% with polycythemia vera, 33.33% with essential thrombocythemia and 2.38% with primary myelofibrosis; the overall frequency for the JAK2 V617F mutation in myeloproliferative neoplasms was 21.3%. CONCLUSIONS JAK2 V617F is a pathogenic variant prevalent in our environment in patients with myeloproliferative neoplasms, however this frequency is lower compared to that reported by other countries, which is why its study is highly relevant when determining the causality of these diseases.