Your browser doesn't support javascript.
loading
Analysis of Genomic Landscape in Patients with Acute Myeloid Leukemia / 中国实验血液学杂志
Journal of Experimental Hematology ; (6): 797-801, 2020.
Artigo em Chinês | WPRIM | ID: wpr-829041
ABSTRACT
OBJECTIVE@#To investigate the gene mutation occurved in AML patients with 29 kinds of fusion genes and 51 kinds of tumor gene.@*METHODS@#Next-generation sequencing (NGS) was used to detected the 49 kinds of targeted gene. FLT3 internal tandem duplication (FLT3-ITD), CALR, NPM1 and CEBPA mutation were detected by DNA-based PCR and Sanger sequencing. Twenty-nine kinds of fusion genes were dected by multiplex nested RT-PCR.@*RESULTS@#The total gene mutation rate was 91% (109/121) in all the 121 patients. On average, 2.1 mutated genes per patient were identified, among these 121 patients, coexistence of ≥ 3 mutations was frequent (34.7%). The most commonly mutated genes were NRAS (23.96%, n=29), followed by NPM1 (14.04%, n=17), CEBPA double mutations (14.04%, n=17), KRAS (11.57%, n=14),FLT3-ITD (10.74%, n=13), CSF3R (10.74%, n=13), TET2 (9.92%, n=12) and IDH1 (9.1%, n=11). Overall, fusion genes were detected in 47 (37.3%) patients, including AML/ETO (n=12), CBFβ/MYH11 (n=11), PML/RARa (n=12), MLL rearranagement realated mutation MLL-X (n=10). TLS/ERG (n=1) and DEK/CAN (n=1) in an order of decreasing frequency. Patients with normal karyotype (NK)- AML exhibited more mutations in CEBPA, NPM1, TET2, RUNX1 and IDH1, comparing with abnormal karyotype patients. KRAS mutation in abnormal kayotype patients was significantly higher than that in normal kayotype patients (P=0.014). TP53 mutations were predominantly associated with complex cytogenetics (P=0.199). KRAS mutations were more frequent in core binding factor (CBF) acute myeloid leukemia (AML) and 11q23/MLL rearrangement leukemia, compared with NK-AML (P=0.006 and 0.003, respectively). KIT mutations predominated in CBF-AML (P=0.006). JAK2V617F mutations were detected in two patients and co-occurred with AML-ETO fusions.@*CONCLUSION@#At least one mutation is observed in more than 90% patients. On average, more than 2 mutated genes per patient are identified. Some gene mutations are associated with gene rearrangement.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Prognóstico / Proteínas Cromossômicas não Histona / Leucemia Mieloide Aguda / Proteínas Oncogênicas / Genômica / Sequenciamento de Nucleotídeos em Larga Escala / Proteínas de Ligação a Poli-ADP-Ribose / Mutação Tipo de estudo: Estudo prognóstico Limite: Humanos Idioma: Chinês Revista: Journal of Experimental Hematology Ano de publicação: 2020 Tipo de documento: Artigo

Similares

MEDLINE

...
LILACS

LIS

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Prognóstico / Proteínas Cromossômicas não Histona / Leucemia Mieloide Aguda / Proteínas Oncogênicas / Genômica / Sequenciamento de Nucleotídeos em Larga Escala / Proteínas de Ligação a Poli-ADP-Ribose / Mutação Tipo de estudo: Estudo prognóstico Limite: Humanos Idioma: Chinês Revista: Journal of Experimental Hematology Ano de publicação: 2020 Tipo de documento: Artigo