{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T05:05:52Z","timestamp":1791176752331,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,2,5]],"date-time":"2013-02-05T00:00:00Z","timestamp":1360022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:p>Recurrent somatic mutations in splicing machinery components, including <jats:italic>SF3B1, U2AF1<\/jats:italic> and <jats:italic>SRSF2<\/jats:italic> genes have recently been reported in myelodysplastic syndromes (MDS). Such a recurrent nature strongly suggests that these mutations play important roles in tumor development. To see whether <jats:italic>SF3B1, U2AF1<\/jats:italic> and <jats:italic>SRSF2<\/jats:italic> mutations occur in other human tumors besides MDS, we analyzed the hotspot mutation regions of these genes in 2,345 tumor tissues from various origins (61 MDS, other 616 hematologic tumors, 1,421 epithelial tumors and 247 non\u2010epithelial stromal tumors) by single\u2010strand conformation polymorphism analysis. We found <jats:italic>SF3B1, U2AF1<\/jats:italic> and <jats:italic>SRSF2<\/jats:italic> mutations in 5 (8.2%), 12 (19.7%) and 8 (13.1%) of 61 MDS, respectively. We also confirmed these mutations in other myeloid neoplasia, including <jats:italic>de novo<\/jats:italic> acute myelogenous leukemia (AML), chronic myelomonocytic leukemia and MDS\/myeloproliferative disorder. In addition, we discovered that the <jats:italic>SRSF2<\/jats:italic> gene was mutated in two childhood acute lymphoblastic leukemias (childhood ALL) (1.5%). In solid tumors, we found <jats:italic>SF3B1<\/jats:italic> mutations in gastric and prostate cancers, and <jats:italic>U2AF1<\/jats:italic> mutation in a borderline mucinous tumor of ovary, but the overall incidences of the hotspot mutation regions were very low (0.2%). Our data suggest that <jats:italic>SF3B1, U2AF1<\/jats:italic> and <jats:italic>SRSF2<\/jats:italic> mutations occur not only in myeloid lineage tumors but also in lymphoid lineage tumors. The data suggest that the splicing gene mutations play important roles in the pathogenesis of hematologic tumors, but rarely in solid tumors.<\/jats:p>","DOI":"10.1002\/ijc.28011","type":"journal-article","created":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T17:54:23Z","timestamp":1357062863000},"page":"260-265","source":"Crossref","is-referenced-by-count":67,"title":["Mutational analysis of splicing machinery genes <scp><i>SF3B1, U2AF1<\/i><\/scp> and <scp><i>SRSF2<\/i><\/scp> in myelodysplasia and other common tumors"],"prefix":"10.1002","volume":"133","author":[{"given":"Eun Mi","family":"Je","sequence":"first","affiliation":[{"name":"Department of Pathology, College of Medicine The Catholic University of Korea Seoul 137\u2010701 Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nam Jin","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine The Catholic University of Korea Seoul 137\u2010701 Korea"},{"name":"Cancer Evolution Research Center, College of Medicine, The Catholic University of Korea Seoul 137\u2010701 Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoo Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, College of Medicine The Catholic University of Korea Seoul 137\u2010701 Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myung Shin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, College of Medicine The Catholic University of Korea Seoul 137\u2010701 Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sug Hyung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine The Catholic University of Korea Seoul 137\u2010701 Korea"},{"name":"Cancer Evolution Research Center, College of Medicine, The Catholic University of Korea Seoul 137\u2010701 Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,2,5]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0902908"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.24440"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10496"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1103283"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1031"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-09-377275"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1032"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11017"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11143"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.08.029"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.02.009"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208304"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2688"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2653"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2010.11.009"},{"key":"e_1_2_4_17_1","first-page":"5749","article-title":"ZD1839 (Iressa): an orally active inhibitor of epidermal growth factor signaling with potential for cancer therapy","volume":"62","author":"Wakeling AE","year":"2002","journal-title":"Cancer Res"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa051113"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0902542"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.28011","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.28011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T05:40:19Z","timestamp":1698644419000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.28011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,5]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1002\/ijc.28011"],"URL":"https:\/\/doi.org\/10.1002\/ijc.28011","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,5]]}}}