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We set out to examine the clinical and molecular characteristics of patients undergoing investigation for myeloid neoplasms, found to have deleterious <jats:italic>ETV6<\/jats:italic> mutations. <jats:italic>ETV6<\/jats:italic> mutations occurred in 33 of 5793 (0.6%) cases investigated and predominantly in high\u2010risk disease entities including MDS with increased blasts, primary myelofibrosis and AML, myelodysplasia\u2010related. In three cases, isolated iso (17q) karyotype was concurrently detected, an otherwise rare karyotype in myeloid neoplasms. <jats:italic>ETV6<\/jats:italic> mutations were frequently subclonal and never occurred as an isolated abnormality with <jats:italic>ASXL1<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u200922, 75%), <jats:italic>SRSF2<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u200914, 42%) and <jats:italic>SETBP1<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u200911, 33%) the predominant co\u2010mutations. Restricting to patients with MDS, higher rates of ASXL1, SETBP1, RUNX1 and U2AF1 mutations occurred in <jats:italic>ETV6<\/jats:italic> mutated cases, relative to a consecutive control cohort with wild\u2010type <jats:italic>ETV6<\/jats:italic>. The median OS of the cohort was 17.5\u2009months. This report highlights the clinical and molecular associations of somatic <jats:italic>ETV6<\/jats:italic> mutations in myeloid neoplasms, suggests their occurrence as a later event, and proposes further translational research questions for their role in myeloid neoplasia.<\/jats:p>","DOI":"10.1111\/bjh.18850","type":"journal-article","created":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T08:25:01Z","timestamp":1683275101000},"page":"279-283","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The clinical and molecular spectrum of <scp><i>ETV6<\/i><\/scp> mutated myeloid neoplasms"],"prefix":"10.1111","volume":"202","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7062-2644","authenticated-orcid":false,"given":"Mark","family":"Gurney","sequence":"first","affiliation":[{"name":"Division of Hematology Mayo Clinic  Rochester Minnesota 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