ArticleCancer reports (Hoboken, N.J.)2022
Mutation profile of acute myeloid leukaemia in a Chinese cohort by targeted next-generation sequencing.
Article in Cancer reports (Hoboken, N.J.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Molecular Profiling of Acute Myeloid Leukemia in Pakistan: Comprehensive Variant Landscape Revealed by Targeted NGS.International journal of molecular sciences · 2026Article
- Mutation profile of acute myeloid leukaemia in a Chinese cohort by targeted next-generation sequencing.Cancer reports (Hoboken, N.J.) · 2022Article
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAcute myeloid leukaemia (AML) results from the clonal expansion of blast cells of myeloid origin driven by genomic defects. The advances in next-generation sequencing (NGS) have allowed the identification of many mutated genes important in the pathogenesis of AML.
aimsIn this study, we aimed to assess the mutation types and frequency in a Chinese cohort presenting with de novo AML cohort using a targeted NGS strategy.
methodsIn total, we studied samples from 87 adult patients with de novo AML who had no prior history of cytotoxic chemotherapy. Samples were evaluated using a 120-gene targeted NGS panel to assess the mutation profile.
resultsOf the 87 AML patients, there were 60 (69%) with a normal karyotype. 89.7% of patients had variants, with an average of 1.9 mutations per patient (range: 0-5 mutations per patient). DNMT3A variants were the most common, being detected in 33 patients (37.9%). NPM1 (34.5%), IDH1/2 (24.1%) and FLT3-ITD (20.7%) mutations was the next most common. Of the patients with DNMT3A mutations, 24.2% also had mutations NPM1 and FLT3-ITD and 6.1% NPM1, FLT3-ITD and IDH mutations.
conclusionBoth DNMT3A and NPM1 mutations were more common than in other Chinese and Western AML cohorts that have been studied. DNMT3A mutations tended to co-occur with NPM1 and FLT3-ITD mutations and were most commonly seen with a normal karyotype.
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