{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T08:48:16Z","timestamp":1759481296558,"version":"3.37.3"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2019,12,20]],"date-time":"2019-12-20T00:00:00Z","timestamp":1576800000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,5,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Myelodysplastic syndrome\/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS\/MPN-RS-T) is a new disease entity in the current WHO classification. Genetically, 60%\u201390% of cases have mutations in SF3B1, strongly associated with RS, and more than half of them cooccur with JAK2 V617F. This report describes the rare case of MDS\/MPN-RS-T with SF3B1 mutation cooccurring with an MPL mutation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We report a 79-year-old man who was referred because of generalized edema. Peripheral blood testing showed macrocytic anemia and thrombocytosis, and bone marrow analysis demonstrated dyserythropoiesis with RS and increased megakaryocytes. A molecular study was performed to detect SF3B1 mutations and recurrent mutations in MPN disease (JAK2 V617F\/exon 12, CALR gene exon 9, and MPL gene exon 10 mutations).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The molecular study revealed SF3B1 K666T and MPL W515R mutations, while BCR-ABL1 or JAK2 V617F\/exon 12 and CALR mutations were all negative.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This is a rare case of concomitant SF3B1 and MPL mutations in MDS\/MPN-RS-T.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/labmed\/lmz076","type":"journal-article","created":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T20:11:24Z","timestamp":1576786284000},"page":"315-319","source":"Crossref","is-referenced-by-count":3,"title":["Myelodysplastic Syndrome\/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis with Cooccurrent SF3B1 and MPL Gene Mutations: A Case Report and Brief Review of the Literature"],"prefix":"10.1093","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0412-3732","authenticated-orcid":false,"given":"Chang-Hun","family":"Park","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine & Genetics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jae Won","family":"Yun","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun-Young","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"},{"name":"Department of Laboratory Medicine, Gyeongsang National University Hospital, Jinju, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki-O","family":"Lee","sequence":"first","affiliation":[{"name":"Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun-Hee","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee-Jin","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,12,20]]},"reference":[{"volume-title":"WHO classification of 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