{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T18:35:16Z","timestamp":1764873316866},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,4,28]],"date-time":"2014-04-28T00:00:00Z","timestamp":1398643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:p>The <jats:italic>SF3B1<\/jats:italic> mutation can be detected in patients with myelodysplastic syndrome (MDS), but the report regarding the association of this mutation with other genetic alterations and its stability during disease progression is limited. In this study, <jats:italic>SF3B1<\/jats:italic> mutations were identified in 10% of total cohort of 479 MDS patients and 61.8% of 34 patients with refractory anemia with ring sideroblasts (RARS). <jats:italic>SF3B1<\/jats:italic> mutations were closely associated with older age, higher platelet counts, lower lactate dehydrogenase levels, good\u2010risk cytogenetics, and mutations of <jats:italic>DNMT3A<\/jats:italic>, but inversely related to <jats:italic>ASXL1<\/jats:italic> mutations. Most <jats:italic>SF3B1\u2010<\/jats:italic>mutated patients had concurrent other genetic alterations, including <jats:italic>DNMT3A<\/jats:italic> and <jats:italic>RUNX1<\/jats:italic> mutations. There was no prognostic difference between patients with <jats:italic>SF3B1<\/jats:italic> mutations and those without. Sequential studies in 417 samples from 142 patients demonstrated that all <jats:italic>SF3B1<\/jats:italic>\u2010mutated patients retained the same mutations during disease evolution with the exception of two patients who lost the mutation after allogeneic hematopoietic stem cell transplantation, whereas none of the <jats:italic>SF3B1<\/jats:italic>\u2010wild patients acquired a novel mutation during clinical follow\u2010ups. In conclusion, the patients with <jats:italic>SF3B1<\/jats:italic> mutations had distinct clinic\u2010biologic features. <jats:italic>SF3B1<\/jats:italic> mutations, accompanied with other genetic alterations, especially <jats:italic>DNMT3A<\/jats:italic> mutations, may play a role in the development of MDS, but have little role in disease progression. Am. J. Hematol. 89:E109\u2013E115, 2014. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajh.23734","type":"journal-article","created":{"date-parts":[[2014,4,10]],"date-time":"2014-04-10T11:43:52Z","timestamp":1397130232000},"source":"Crossref","is-referenced-by-count":25,"title":["<i>SF3B1<\/i> mutations in patients with myelodysplastic syndromes: The mutation is stable during disease evolution"],"prefix":"10.1002","volume":"89","author":[{"given":"Chien\u2010Chin","family":"Lin","sequence":"first","affiliation":[{"name":"Division of Hematology Department of Internal Medicine National Taiwan University Hospital Taipei Taiwan"},{"name":"Graduate Institute of Clinical Medicine College of Medicine National Taiwan University Taipei Taiwan"},{"name":"Department of Laboratory Medicine National Taiwan University Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsin\u2010An","family":"Hou","sequence":"additional","affiliation":[{"name":"Division 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