Mutaciones en los genes NPM1, IDH1 e IDH2 en pacientes paraguayos con leucemia mieloide aguda

Lady Franco-Benegas; Maria Paz Mujica; Valerie Jolly; Victor Salinas; Jose Zarza; Diana Gonzalez; Denisse Di Tore; Laura Morel; Juan Jose Bogado; Monica Labrano; Samadi Leiva; José Manuel Ovando; Rodrigo  Santacruz; Miguel  Britez; Ana Ilda Ayala-Lugo

doi:10.52379/mcs.v9.591

Authors

Lady Franco-Benegas Universidad Nacional de Asunción, Instituto de Investigaciones en Ciencias de la Salud, Departamento de Genética Molecular, San Lorenzo, Paraguay.
Maria Paz Mujica Universidad Nacional de Asunción, Instituto de Investigaciones en Ciencias de la Salud, Programa de Post-grado de Maestría en Ciencias Biomédicas, San Lorenzo, Paraguay.
Valerie Jolly Universidad Nacional de Asunción, Instituto de Investigaciones en Ciencias de la Salud, Departamento de Genética Molecular, San Lorenzo, Paraguay.
Victor Salinas Instituto de Previsión Social, Hospital Central Emilio Cubas, Departamento de Hematología, Asunción, Paraguay
Jose Zarza Universidad Nacional de Asunción, Facultad de Ciencias Médicas, Hospital de Clínicas, Departamento de Hematología Adultos, San Lorenzo, Paraguay.
Diana Gonzalez Instituto de Previsión Social, Hospital Central Emilio Cubas, Departamento de Hematología, Asunción, Paraguay.
Denisse Di Tore Universidad Nacional de Asunción, Instituto de Investigaciones en Ciencias de la Salud, Departamento de Genética Molecular, San Lorenzo, Paraguay.
Laura Morel Instituto de Previsión Social, Hospital Central Emilio Cubas, Departamento de Hematología, Asunción, Paraguay.
Juan Jose Bogado Instituto de Previsión Social, Hospital Central Emilio Cubas, Departamento de Hematología, Asunción, Paraguay.
Monica Labrano Instituto de Previsión Social, Hospital Central Emilio Cubas, Departamento de Hematología, Asunción, Paraguay.
Samadi Leiva Instituto de Previsión Social, Hospital Central Emilio Cubas, Departamento de Hematología, Asunción, Paraguay.
José Manuel Ovando Instituto de Previsión Social, Hospital Central Emilio Cubas, Departamento de Hematología, Asunción, Paraguay.
Rodrigo Santacruz Universidad Nacional de Asunción, Facultad de Ciencias Médicas, Departamento de Hematología Adultos, San Lorenzo, Paraguay.
Miguel Britez Instituto de Previsión Social, Hospital Central Emilio Cubas. Departamento de Hematología, Asunción, Paraguay.
Ana Ilda Ayala-Lugo `Universidad Nacional de Asunción, Instituto de Investigaciones en Ciencias de la Salud, Departamento de Genética Molecular, San Lorenzo, Paraguay.

DOI:

https://doi.org/10.52379/mcs.v9.591

Keywords:

Acute Myeloid leukemia, NPM1, IDH1, IDH2, molecular diagnosis

Abstract

Introduction: Acute myeloid leukemia (AML) arises from the clonal expansion of myeloid blasts in peripheral blood, bone marrow, or other tissues. Its etiology is associated with the development of genetic mutations. Identifying actionable mutations is clinically relevant for the diagnosis, prognosis, and treatment of AML. Objective: To identify and describe the mutation profile of the NPM1, IDH1, and IDH2 genes in Paraguayan patients diagnosed with AML. Methodology: A retrospective molecular epidemiological study was conducted on 32 AML patient samples harboring NPM1 mutations. Real-time PCR and Sanger sequencing were performed to detect genetic variants. Results: The most frequently detected NPM1 mutation was type A, identified in 94% (30/32) of cases. Additionally, IDH1 and IDH2 mutations were found in 40% (13/32) of cases, with the IDH2 R140Q variant being the most predominant. The most frequent co-occurrence of mutations was observed between NPM1 and IDH2. Conclusion: This study provides valuable insights into the mutational profile of NPM1, IDH1, and IDH2 in AML patients in Paraguay, highlighting the relevance of these markers for risk stratification and their potential benefit for targeted therapies.

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