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Their occurrence is highest during progression or at failure, but their impact at diagnosis is unclear. In the present study, we prospectively screened for mutations in 18 myeloid neoplasm\u2010associated genes and <jats:italic>BCR\u2010ABL1<\/jats:italic> KD in the following populations: bulk leucocytes, CD34<jats:sup>+<\/jats:sup>CD38<jats:sup>+<\/jats:sup> progenitors and CD34<jats:sup>+<\/jats:sup>CD38<jats:sup>\u2013<\/jats:sup> stem cells, at diagnosis and early follow\u2010up. In our cohort of chronic phase CML patients, nine of 49 patients harboured somatic mutations in the following genes: six <jats:italic>ASXL1<\/jats:italic> mutations, one <jats:italic>SETBP1<\/jats:italic>, one <jats:italic>TP53,<\/jats:italic> one <jats:italic>JAK2<\/jats:italic>, but no <jats:italic>BCR\u2010ABL1<\/jats:italic> KD mutations. In seven of the nine patients, mutations were detected in multiple hierarchical populations including bulk leucocytes at diagnosis. The mutation dynamics reflected the <jats:italic>BCR\u2010ABL1<\/jats:italic> transcript decline induced by treatment in eight of the nine cases, suggesting that mutations were acquired in the Philadelphia chromosome (Ph)\u2010positive clone. In one patient, the <jats:italic>JAK2<\/jats:italic> V617F mutation correlated with a concomitant Ph\u2010negative myeloproliferative neoplasm and persisted despite a 5\u2010log reduction of the <jats:italic>BCR\u2010ABL1<\/jats:italic> transcript. Only two of the nine patients with mutations failed first\u2010line therapy. No correlation was found between the mutation status and survival or response outcomes.<\/jats:p>","DOI":"10.1111\/bjh.17659","type":"journal-article","created":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T08:40:51Z","timestamp":1625215251000},"page":"604-612","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Hierarchical distribution of somatic variants in newly diagnosed chronic myeloid leukaemia at diagnosis and early follow\u2010up"],"prefix":"10.1111","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0708-3198","authenticated-orcid":false,"given":"Marianna","family":"Romzova","sequence":"first","affiliation":[{"name":"Central European Institute of Technology Masaryk University Brno Czech 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