JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms
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Background
Among the chronic myeloproliferative neoplasms (MPNs) not associated with BCR-ABL mutations are polycythemia vera, primary myelofibrosis, and essential thrombocythemia. These diseases are caused by gene mutations, such as the JAK2, MPL, and CALR genes, which regulate the JAK-STAT signaling pathway.
Objective
This study aimed to establish the frequencies of mutations in the JAK2, MPL, and CALR genes in Colombian patients with a negative clinical diagnosis of BCR-ABL chronic myeloproliferative neoplasms.
Methods
The JAK2 V617F and MPL W515K mutations and deletions or insertions in exon 9 of the CALR gene were analyzed in 52 Colombian patients with polycythemia vera, primary myelofibrosis, and essential thrombocythemia.
Results
The JAK2V617F mutation was carried by 51.9% of the patients, the CALR mutation by 23%, and the MPL mutation by 3.8%; 23% were triple-negative for the mutations analyzed. Six mutation types in CALR were identified in these neoplasms, one of which has not been previously reported. Additionally, one patient presented a double mutation in the CALR and JAK2 genes. Regarding the hematological results for the mutations, significant differences were found in the hemoglobin level, hematocrit level, and platelet count among the three neoplasms.
Conclusion
Thus, this study demonstrates the importance of the molecular characterization of the JAK2, CALR and MPL mutations in Colombian patients (the genetic context of which remains unclear in the abovementioned neoplasms) to achieve an accurate diagnosis, a good prognosis, adequate management, and patient survival.
- Thrombocythemia, Essential
- Primary Myelofibrosis
- Polycythemia Vera
- Myeloproliferative Disorders
- Janus Kinase 2
- STAT Transcription Factors
Ana Isabel Giraldo-Rincon, 1 Universidad de Antioquia, Facultad de Medicina, Unidad de Genética Médica, Medellín, Colombia
https://orcid.org/0009-0000-4510-2826Sara Naranjo Molina, Universidad de Antioquia, Facultad de Medicina, Unidad de Genética Médica, Medellín, Colombia.
Natalia Gomez-Lopera, Universidad de Antioquia, Facultad de Medicina, Unidad de Genética Médica, Medellín, Colombia.
Daniel Aguirre Acevedo, Universidad de Antioquia, Grupo Académico de Epidemiología Clinica, Medellin, Colombia.
Andrea Ucroz Benavidez, Universidad de Antioquia, Facultad de Medicina, Unidad de Genética Médica, Medellín, Colombia.
Kenny Gálvez Cárdenas, Hospital Pablo Tobón Uribe, Medellín, Colombia
Francisco Cuellar Ambrosí, Hospital Alma Mater, Medellín, Colombia
Jose Domingo Torres, Hospital Universitario San Vicente Fundación, Medellín, Colombia.
Sigifredo Ospina, Hospital Universitario San Vicente Fundación, Medellín, Colombia.
Katherine Palacio, Universidad de Antioquia, Facultad de Medicina, Unidad de Genética Médica, Medellín, Colombia
Lina Gaviria Jaramillo, Hospital Universitario San Vicente Fundación, Medellín, Colombia
Carlos Mario Muñeton, Universidad de Antioquia, Facultad de Medicina, Unidad de Genética Médica, Medellín, Colombia
Gonzalo Vasquez Palacio, 1 Universidad de Antioquia, Facultad de Medicina, Unidad de Genética Médica, Medellín, Colombia
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