{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:43:42Z","timestamp":1753868622975,"version":"3.41.2"},"reference-count":44,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,10,6]],"date-time":"2021-10-06T00:00:00Z","timestamp":1633478400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Reports"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Acute myeloid leukaemia (AML) results from the clonal expansion of blast cells of myeloid origin driven by genomic defects. The advances in next\u2010generation sequencing (NGS) have allowed the identification of many mutated genes important in the pathogenesis of AML.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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\u2010gene targeted NGS panel to assess the mutation profile.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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\u20135 mutations per patient). <jats:italic>DNMT3A<\/jats:italic> variants were the most common, being detected in 33 patients (37.9%). <jats:italic>NPM1<\/jats:italic> (34.5%), <jats:italic>IDH1\/2<\/jats:italic> (24.1%) and <jats:italic>FLT3\u2010ITD<\/jats:italic> (20.7%) mutations was the next most common. Of the patients with <jats:italic>DNMT3A<\/jats:italic> mutations, 24.2% also had mutations <jats:italic>NPM1<\/jats:italic> and <jats:italic>FLT3\u2010ITD<\/jats:italic> and 6.1% <jats:italic>NPM1<\/jats:italic>, <jats:italic>FLT3\u2010ITD<\/jats:italic> and <jats:italic>IDH<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Both <jats:italic>DNMT3A<\/jats:italic> and <jats:italic>NPM1<\/jats:italic> mutations were more common than in other Chinese and Western AML cohorts that have been studied. <jats:italic>DNMT3A<\/jats:italic> mutations tended to co\u2010occur with <jats:italic>NPM1<\/jats:italic> and <jats:italic>FLT3\u2010ITD<\/jats:italic> mutations and were most commonly seen with a normal karyotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cnr2.1573","type":"journal-article","created":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T23:58:29Z","timestamp":1633737509000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Mutation profile of acute myeloid leukaemia in a Chinese cohort by targeted next\u2010generation sequencing"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3446-6397","authenticated-orcid":false,"given":"Benny Man Wai","family":"Lit","sequence":"first","affiliation":[{"name":"Department of Pathology Queen Elizabeth Hospital  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Belinda B.","family":"Guo","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences The University of Western Australia  Perth WA Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques A. 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