{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T23:28:24Z","timestamp":1787614104988,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T00:00:00Z","timestamp":1672272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["acsjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2023,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>ETNK1<\/jats:italic> mutation has been suggested as a useful tool to support the diagnosis of atypical chronic myeloid leukemia. <jats:italic>ETNK1<\/jats:italic> mutations, however, occur in other myeloid neoplasms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The authors assessed the clinicopathologic and molecular genetic features of 80 <jats:italic>ETNK1\u2010<\/jats:italic>mutated myeloid neoplasms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010seven neoplasms (46%) were classified as myelodysplastic syndrome, 17 (21%) were classified as myelodysplastic\/myeloproliferative neoplasm, 14 (18%) were classified as acute myeloid leukemia, and 12 (15%) were classified as myeloproliferative neoplasm. <jats:italic>ETNK1<\/jats:italic> mutations were detected at the first test in 96% of patients, suggesting that <jats:italic>ETNK1<\/jats:italic> mutation is an early event in pathogenesis. <jats:italic>ETNK1<\/jats:italic> mutations represented the dominant clone in 63% of patients and was persistently dominant in 93%. The variant allele frequencies were usually higher in acute myeloid leukemia and increased upon leukemic transformation. <jats:italic>ETNK1<\/jats:italic> mutation was accompanied by coexisting mutations in all patients, with <jats:italic>ASXL1<\/jats:italic> (50%), <jats:italic>TET2<\/jats:italic> (25%), <jats:italic>EZH2<\/jats:italic> (24%), <jats:italic>RUNX1<\/jats:italic> (24%), and <jats:italic>SRSF2<\/jats:italic> (24%) mutations being the most common. Neoplasms with <jats:italic>ETNK1<\/jats:italic> mutations were associated with morphologic dysplasia, increased blasts, myelofibrosis, and noncomplex karyotypes. With a median follow\u2010up of 16.5\u00a0months, 30 patients died, 44 had persistent disease, and four achieved complete remission after stem cell transplantation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>ETNK1<\/jats:italic> mutation is present in various myeloid neoplasms, often as an early event and a dominant clone and always with concurrent mutations. It may play an important role in the pathogenesis and progression of myeloid neoplasms by causing DNA damage and inducing other mutations and genomic instability, and it may serve as a potential therapeutic target. <jats:italic>ETNK1<\/jats:italic> mutation is not disease\u2010specific and should be interpreted with caution to classify myeloid neoplasms.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.34616","type":"journal-article","created":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T02:18:45Z","timestamp":1672366725000},"page":"878-889","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<i>ETNK1<\/i> mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia"],"prefix":"10.1002","volume":"129","author":[{"given":"Wen","family":"Shuai","sequence":"first","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"},{"name":"Department of Pathology Duke University School of Medicine  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuang","family":"Zuo","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nianyi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Garces","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima Zahra","family":"Jelloul","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi Young","family":"Ok","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9111-8068","authenticated-orcid":false,"given":"M. James","family":"You","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Rehder","sequence":"additional","affiliation":[{"name":"Department of Pathology Duke University School of Medicine  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4465-6119","authenticated-orcid":false,"given":"Elias J.","family":"Jabbour","sequence":"additional","affiliation":[{"name":"Department of Leukemia The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keyur P.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Jeffrey","family":"Medeiros","sequence":"additional","affiliation":[{"name":"Department of Hematopathology The University of Texas MD Anderson Cancer Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6630-4128","authenticated-orcid":false,"given":"C. 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