ArticleFrontiers of medicine2019
Mutation profiling of 16 candidate genes in de novo acute myeloid leukemia patients.
Article in Frontiers of medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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11 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Prevalence of Fms-Like Tyrosine Kinase 3 (FLT3) Mutations in Patients With Acute Myeloid Leukaemia: A Systematic Literature Review and Meta-Analysis.Cancer medicine · 2025Pooled it
- Synergistic adverse prognosis ofFrontiers in cell and developmental biology · 2026Article
- Addition of venetoclax to myeloablative conditioning regimens for allogeneic hematopoietic stem cell transplantation in high-risk AML.Annals of medicine · 2023Article
- Comprehensive assessment of differential ChIP-seq tools guides optimal algorithm selection.Genome biology · 2022Article
- Identification of gene targets of mutant C/EBPα reveals a critical role for MSI2 in CEBPA-mutated AML.Leukemia · 2021Article
- Genetic alterations in Thai adult patients with acute myeloid leukemia and myelodysplastic syndrome-excess blasts detected by next-generation sequencing technique.Annals of hematology · 2021Observational
- CCAAT enhancer binding protein alpha (CEBPA) biallelic acute myeloid leukaemia: cooperating lesions, molecular mechanisms and clinical relevance.British journal of haematology · 2020Review
- Gain-of-Function Effects of N-Terminal CEBPA Mutations in Acute Myeloid Leukemia.BioEssays : news and reviews in molecular, cellular and developmental biology · 2020Review
- CEBPA-mutated leukemia is sensitive to genetic and pharmacological targeting of the MLL1 complex.Leukemia · 2019Article
- Clinical Features and MicroRNA Expression Patterns Between AML Patients With DNMT3A R882 and Frameshift Mutations.Frontiers in oncology · 2019Article
- A rare case of acute promyelocytic leukemia with IRF2BP2-RARA fusion; and literature review.OncoTargets and therapy · 2019Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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