Frequency of mutations in the JAK2, MPL, and CALR genes in BCR::ABL1-negative chronic myeloproliferative neoplasms in patients from two hospitals in the city of Medellín, Colombia, during 2020-2021
DOI:
https://doi.org/10.35509/01239015.861Keywords:
myeloproliferative disorders, BCR-ABL1, JAK2, MPL, CALRAbstract
Background: In the 2016 WHO classification, the subgroup of BCR::ABL1 negative chronic myeloproliferative neoplasms (MPNs) is made up of three entities: polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), which are characterized by mutations in the JAK2, MPL, and CALR genes with important diagnostic and prognostic value.
Objective: To determine the frequency of mutations in the JAK2, MPL, and CALR genes in BCR::ABL1 negative chronic MPNs and to explore the association between the type of BCR::ABL1 negative chronic MPNs, mutational status, and blood count parameters in patients from two hospitals in the city of Medellín, Colombia, during 2020-2021.
Methods: Cross-sectional descriptive observational study, which included patients with a diagnosis of BCR::ABL1-negative MPNs. JAK2, MPL, and CALR genes were assessed by massive sequencing using the illumina® TruSight One panel. A descriptive analysis was performed by estimating relative and absolute frequencies or summary measures (central tendency, dispersion, or position) depending on the nature of the variables.
Results: A total of 24 patients were included in the study; 37.5% of the cases corresponded to patients with ET. The distribution according to mutational status was non-mutated or triple negative in 13 cases (54.2%) and mutated in 11 cases (45.8%). The pathogenic mutations found in order of frequency were JAK2 (82%), MPL (9%), and CALR (9%).
Conclusion: Our study is consistent with what has been reported in the world literature, with JAK2 V617F being the most frequent mutation in BCR::ABL1-negative MPNs. Lower frequencies for CALR and MPL may be influenced by the sample size.
Author Biographies
Erika Pino, Grupo Hematopatología Molecular, Universidad de Antioquia, Medellín, Colombia.
1. Grupo Hematopatología Molecular, Universidad de Antioquia, Medellín, Colombia.
Paola Acevedo, Grupo Hematopatología Molecular, Universidad de Antioquia, Medellín, Colombia.
1. Grupo Hematopatología Molecular, Universidad de Antioquia, Medellín, Colombia.
Kenny Gálvez, Servicio de Hematología y Trasplante de Médula Ósea, Hospital Pablo Tobón Uribe, Medellín, Colombia.
2. Servicio de Hematología y Trasplante de Médula Ósea, Hospital Pablo Tobón Uribe, Medellín, Colombia.
Beatriz Aristizábal, Laboratorio Unidad de Investigación Genética Molecular (UNIGEM), Medellín, Colombia.
3. Laboratorio Unidad de Investigación Genética Molecular (UNIGEM), Medellín, Colombia.
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