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Updated: Oct 17, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Mutation profile of acute myeloid leukaemia in a Chinese cohort by targeted next-generation sequencing
Benny Man Wai Lit1, Belinda B Guo2, Jacques A J Malherbe3
1Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China.
Background:
Acute 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.
Aims:
In 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.
Methods:
In 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.
Results:
Of 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.
Conclusion:
Both 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.
