{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T11:02:42Z","timestamp":1780484562314,"version":"3.54.1"},"reference-count":52,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2020,3,10]]},"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      Spliceosome genes (\n                      <jats:italic>SF3B1<\/jats:italic>\n                      ,\n                      <jats:italic>SRSF2<\/jats:italic>\n                      ,\n                      <jats:italic>U2AF1<\/jats:italic>\n                      and\n                      <jats:italic>ZRSR2<\/jats:italic>\n                      ) are commonly mutated in myeloid neoplasms, particularly in myelodysplastic syndromes (MDS).\n                      <jats:italic>JAK2<\/jats:italic>\n                      ,\n                      <jats:italic>MPL<\/jats:italic>\n                      and\n                      <jats:italic>CALR<\/jats:italic>\n                      mutations are associated with myeloproliferative neoplasms (MPN). Although\n                      <jats:italic>SF3B1<\/jats:italic>\n                      and MPN-associated mutations frequently co-occur in the rare entity MDS\/MPN with ring sideroblasts and thrombocytosis (MDS\/MPN-RS-T), myeloid neoplasms with concurrent spliceosome and MPN-associated mutations encompass many disease entities and are not well characterised.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Specimens from 2016 to 2019 with concurrent spliceosome and MPN-associated mutations were identified, and the clinicopathologic features were assessed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The 36 cases were divided into mutational categories based on their spliceosome mutation. At diagnosis, cases with concurrent\n                      <jats:italic>U2AF1<\/jats:italic>\n                      and MPN-associated mutations had lower leucocyte counts and platelet counts than did the other groups. Cases with mutant\n                      <jats:italic>SRSF2<\/jats:italic>\n                      were more likely to have\n                      <jats:italic>ASXL1<\/jats:italic>\n                      and\n                      <jats:italic>IDH2<\/jats:italic>\n                      mutations, while\n                      <jats:italic>U2AF1-<\/jats:italic>\n                      mutated neoplasms were more likely to have an abnormal karyotype. The most common\n                      <jats:italic>SF3B1<\/jats:italic>\n                      K700 and\n                      <jats:italic>U2AF1<\/jats:italic>\n                      S34 mutational hotspots were underrepresented in our cohort of myeloid neoplasms with concurrent spliceosome and MPN-associated mutations, as\n                      <jats:italic>SF3B1<\/jats:italic>\n                      and\n                      <jats:italic>U2AF1<\/jats:italic>\n                      mutations tended to involve other codons. Numerous WHO-defined disease entities were represented in each spliceosome gene category; although MDS\/MPN-RS-T were only identified in the group with\n                      <jats:italic>SF3B1<\/jats:italic>\n                      mutations, they constituted only 1\/4 of the neoplasms in the category.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Myeloid neoplasms with different mutant splicing factor and concurrent MPN-associated mutations demonstrate somewhat different clinical and pathologic features, but t he association between genotypes and phenotypes in these overlapping neoplasms is not straightforward.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2020-206495","type":"journal-article","created":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T17:15:53Z","timestamp":1585242953000},"page":"728-736","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Clinicopathologic characterisation of myeloid neoplasms with concurrent spliceosome mutations and myeloproliferative-neoplasm-associated mutations"],"prefix":"10.1136","volume":"73","author":[{"given":"Yen-Chun","family":"Liu","sequence":"first","affiliation":[{"name":"Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwendolyn M","family":"Illar","sequence":"additional","affiliation":[{"name":"Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6747-680X","authenticated-orcid":false,"given":"Nathanael Glen","family":"Bailey","sequence":"additional","affiliation":[{"name":"Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,3,26]]},"reference":[{"key":"2025120518170004000_73.11.728.1","unstructured":"Swerdlow SH , Campo E , Harris NL , et al . 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