JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms

ABSTRACT: 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 mutations in genes, such as the JAK2, MPL, and CALR genes, which participate in regulating the JAK-STAT signaling pathway. Objective: This study aimed to establish the frequencies of mutations in the JAK2, MPL, and CALR genes in a group of 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. In these neoplasms, 6 mutation types in CALR were identified, one of which has not been previously reported. Additionally, one patient presented a double mutation in both 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.

• Autores: Giraldo Rincón, Ana Isabel; Naranjo Molina, Sara Carolina; Gómez Lopera, Natalia; Aguirre Acevedo, Daniel Camilo; Ucroz Benavidez, Andrea; Gálvez Cárdenas, Kenny Mauricio; Cuellar Ambrosí, Francisco; Torres Hernández, José Domingo; Ospina Ospina, Sigifredo; Palacio Rúa, Katherine Andrea; Gaviria Jaramillo, Lina María; Muñetón Peña, Carlos Mario; Vásquez Palacio, Gonzalo de Jesús
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2023
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng; spa
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/42638
• Acceso en línea: https://hdl.handle.net/10495/42638
• Palabra clave: Calreticulina - genética; Calreticulin - genetics; Colombia; Mutación; Mutation; Trastornos Mieloproliferativos; Myeloproliferative Disorders; Policitemia Vera; Polycythemia Vera; Janus Quinasa 2; Janus Kinase 2; Receptores de Trombopoyetina; Receptors, Thrombopoietin; Mielofibrosis Primaria; Primary Myelofibrosis; Trombocitemia Esencial; Thrombocythemia, Essential; https://id.nlm.nih.gov/mesh/D037282; https://id.nlm.nih.gov/mesh/D003105; https://id.nlm.nih.gov/mesh/D009154; https://id.nlm.nih.gov/mesh/D009196; https://id.nlm.nih.gov/mesh/D011087; https://id.nlm.nih.gov/mesh/D053614; https://id.nlm.nih.gov/mesh/D053628; https://id.nlm.nih.gov/mesh/D055728; https://id.nlm.nih.gov/mesh/D013920
• Rights: openAccess
• License: https://creativecommons.org/licenses/by-nc-nd/4.0/