CHIEN-CHIN LINHSIN-AN HOUWEN-CHIEN CHOUKuo Y.-Y.SHANG-JU WULiu C.-Y.Chen, Chien-YuanChien-YuanChenTseng M.-H.Huang C.-F.Lee F.-Y.Liu M.-C.Liu C.-W.JIH-LUH TANGMING YAOSHANG-YI HUANGSZU-CHUN HSUBOR-SHENG KOWOEI TSAYYAO-CHANG CHENHWEI-FANG TIEN2021-01-042021-01-0420140361-8609https://www.scopus.com/inward/record.uri?eid=2-s2.0-84904405761&doi=10.1002%2fajh.23734&partnerID=40&md5=f7fc8b068f139bf70b3334e8d2e3b722https://scholars.lib.ntu.edu.tw/handle/123456789/537441The SF3B1 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, SF3B1 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). SF3B1 mutations were closely associated with older age, higher platelet counts, lower lactate dehydrogenase levels, good-risk cytogenetics, and mutations of DNMT3A, but inversely related to ASXL1 mutations. Most SF3B1-mutated patients had concurrent other genetic alterations, including DNMT3A and RUNX1 mutations. There was no prognostic difference between patients with SF3B1 mutations and those without. Sequential studies in 417 samples from 142 patients demonstrated that all SF3B1-mutated 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 SF3B1-wild patients acquired a novel mutation during clinical follow-ups. In conclusion, the patients with SF3B1 mutations had distinct clinic-biologic features. SF3B1 mutations, accompanied with other genetic alterations, especially DNMT3A mutations, may play a role in the development of MDS, but have little role in disease progression. Am. J. Hematol. 89:E109-E115, 2014. ? 2014 Wiley Periodicals, Inc.[SDGs]SDG3CD135 antigen; DNA methyltransferase 3A; isocitrate dehydrogenase 1; isocitrate dehydrogenase 2; Janus kinase 2; K ras protein; lactate dehydrogenase; mixed lineage leukemia protein; protein tyrosine phosphatase SHP 2; transcription factor EZH2; transcription factor RUNX1; WT1 protein; adolescent; adult; aged; allogeneic hematopoietic stem cell transplantation; article; clinical feature; cytogenetics; disease course; female; follow up; gene; gene mutation; human; karyotype; major clinical study; male; myelodysplastic syndrome; priority journal; prognosis; refractory anemia with ringed sideroblasts; SF3B1 gene; thrombocyte count; Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Anemia, Refractory, with Excess of Blasts; Blood Platelets; Core Binding Factor Alpha 2 Subunit; Disease Progression; DNA (Cytosine-5-)-Methyltransferase; Female; Humans; L-Lactate Dehydrogenase; Male; Middle Aged; Mutation Rate; Myelodysplastic Syndromes; Phosphoproteins; Repressor Proteins; Ribonucleoprotein, U2 Small Nuclearjournal article10.1002/ajh.23734247234572-s2.0-84904405761