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Mutation profiling of 16 candidate genes in de novo acute myeloid leukemia patients / 医学前沿
Frontiers of Medicine ; (4): 229-237, 2019.
Artigo em Inglês | WPRIM | ID: wpr-771312
ABSTRACT
This retrospective analysis aimed to investigate the mutation profile of 16 common mutated genes in de novo acute myeloid leukemia (AML) patients. A total of 259 patients who were diagnosed of de novo AML were enrolled in this study. Mutation profiling of 16 candidate genes were performed in bone marrow samples by using Sanger sequencing.We identified at least 1 mutation in 199 of the 259 samples (76.8%), and 2 or more mutations in 31.7% of samples. FLT3-ITD was the most common mutated gene (16.2%, 42/259), followed by CEBPA (15.1%, 39/259), NRAS (14.7%, 38/259), and NPM1 (13.5%, 35/259). Concurrence was observed in 97.1% of the NPM1 mutated cases and in 29.6% of the double mutated CEBPA cases. Distinct patterns of co-occurrence were observed for different hotspot mutations within the IDH2 gene R140 mutations were associated with NPM1 and/or FLT3-ITD mutations, whereas R172 mutations co-occurred with DNMT3A mutations only. Concurrence was also observed in 86.6% of epigenetic regulation genes, most of which co-occurred with NPM1 mutations. The results showed certain rules in the mutation profiling and concurrence of AML patients, which was related to the function classification of genes. Defining the mutation spectrum and mutation pattern of AML will contribute to the comprehensive assessment of patients and identification of new therapeutic targets.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Fenótipo / Análise Mutacional de DNA / Proteínas Nucleares / Leucemia Mieloide Aguda / China / Estudos Retrospectivos / Predisposição Genética para Doença / Perfilação da Expressão Gênica / Proteínas Estimuladoras de Ligação a CCAAT / Tirosina Quinase 3 Semelhante a fms Tipo de estudo: Estudo observacional Limite: Adolescente / Adulto / Idoso / Criança / Criança, pré-escolar / Feminino / Humanos / Masculino País/Região como assunto: Ásia Idioma: Inglês Revista: Frontiers of Medicine Ano de publicação: 2019 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Fenótipo / Análise Mutacional de DNA / Proteínas Nucleares / Leucemia Mieloide Aguda / China / Estudos Retrospectivos / Predisposição Genética para Doença / Perfilação da Expressão Gênica / Proteínas Estimuladoras de Ligação a CCAAT / Tirosina Quinase 3 Semelhante a fms Tipo de estudo: Estudo observacional Limite: Adolescente / Adulto / Idoso / Criança / Criança, pré-escolar / Feminino / Humanos / Masculino País/Região como assunto: Ásia Idioma: Inglês Revista: Frontiers of Medicine Ano de publicação: 2019 Tipo de documento: Artigo