{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:41:51Z","timestamp":1788316911281,"version":"build-2803163510"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    We report on 45 patients with myeloid neoplasms and concurrent Janus kinase 2 (\n                    <jats:italic>JAK2<\/jats:italic>\n                    ) V617F and\n                    <jats:italic>KIT<\/jats:italic>\n                    proto\u2010oncogene, receptor tyrosine kinase (\n                    <jats:italic>KIT<\/jats:italic>\n                    ) D816V (\n                    <jats:italic>JAK2<\/jats:italic>\n                    <jats:sup>pos<\/jats:sup>\n                    <jats:sup>.<\/jats:sup>\n                    \/\n                    <jats:italic>KIT<\/jats:italic>\n                    <jats:sup>pos<\/jats:sup>\n                    <jats:sup>.<\/jats:sup>\n                    ) mutations, which are individually identified in &gt;60% of patients with classical myeloproliferative neoplasms (MPN) and &gt;90% of patients with systemic mastocytosis (SM) respectively. In SM, the concurrent presence of a clonal non\u2010mast cell neoplasm [SM with associated haematological neoplasm (SM\u2010AHN)] usually constitutes a distinct subtype associated with poor survival. All 45 patients presented with a heterogeneous combination of clinical\/morphological features typical of the individual disorders (e.g. leuco\u2010\/erythro\u2010\/thrombocytosis and elevated lactate dehydrogenase for MPN; elevated serum tryptase and alkaline phosphatase for SM). Overlapping features identified in 70% of patients included splenomegaly, cytopenia(s), bone marrow fibrosis and additional somatic mutations. Molecular dissection revealed discordant development of variant allele frequency for both mutations and absence of concurrently positive single\u2010cell derived colonies, indicating disease evolution in two independent clones rather than monoclonal disease in &gt;60% of patients examined. Overall survival of\n                    <jats:italic>JAK2<\/jats:italic>\n                    <jats:sup>pos<\/jats:sup>\n                    <jats:sup>.<\/jats:sup>\n                    \/\n                    <jats:italic>KIT<\/jats:italic>\n                    <jats:sup>pos<\/jats:sup>\n                    <jats:sup>.<\/jats:sup>\n                    patients without additional somatic high\u2010risk mutations [HRM, e.g. in serine and arginine\u2010rich splicing factor 2 (\n                    <jats:italic>SRSF2<\/jats:italic>\n                    ), additional sex combs like\u20101 (\n                    <jats:italic>ASXL1<\/jats:italic>\n                    ) or Runt\u2010related transcription factor 1 (\n                    <jats:italic>RUNX1<\/jats:italic>\n                    )] at 5\u00a0years was 77%, indicating that the mutual impact of\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F and\n                    <jats:italic>KIT<\/jats:italic>\n                    D816V on prognosis is fundamentally different from the adverse impact of additional HRM in the individual disorders.\n                  <\/jats:p>","DOI":"10.1111\/bjh.17567","type":"journal-article","created":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T16:38:37Z","timestamp":1622565517000},"page":"344-354","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Clinical and histopathological features of myeloid neoplasms with concurrent Janus kinase 2 (\n                    <i>JAK2<\/i>\n                    ) V617F and KIT proto\u2010oncogene, receptor tyrosine kinase (\n                    <i>KIT<\/i>\n                    ) D816V mutations"],"prefix":"10.1111","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9177-9133","authenticated-orcid":false,"given":"Nicole","family":"Naumann","sequence":"first","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"L\u00fcbke","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6500-350X","authenticated-orcid":false,"given":"William","family":"Shomali","sequence":"additional","affiliation":[{"name":"Division of Hematology Stanford Cancer Institute\/Stanford University School of Medicine Stanford CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukas","family":"Reiter","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans\u2010Peter","family":"Horny","sequence":"additional","affiliation":[{"name":"Institute of Pathology Ludwig\u2010Maximilian\u2010University Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Jawhar","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vito","family":"Dangelo","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Fabarius","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Metzgeroth","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Kreil","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Sotlar","sequence":"additional","affiliation":[{"name":"Institute of Pathology University Hospital Salzburg Paracelsus Medical University Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Oni","sequence":"additional","affiliation":[{"name":"Department of Haematology Guy\u2019s and St Thomas\u2019 NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Harrison","sequence":"additional","affiliation":[{"name":"Department of Haematology Guy\u2019s and St Thomas\u2019 NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolf\u2010Karsten","family":"Hofmann","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas C. P.","family":"Cross","sequence":"additional","affiliation":[{"name":"Wessex Regional Genetics Laboratory  Salisbury UK"},{"name":"School of Medicine University of Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Valent","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I Division of Haematology and Ludwig Boltzmann Institute for Haematology and Oncology Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3578-0102","authenticated-orcid":false,"given":"Deepti","family":"Radia","sequence":"additional","affiliation":[{"name":"Department of Haematology Guy\u2019s and St Thomas\u2019 NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Gotlib","sequence":"additional","affiliation":[{"name":"Division of Hematology Stanford Cancer Institute\/Stanford University School of Medicine Stanford CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Reiter","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9208-5264","authenticated-orcid":false,"given":"Juliana","family":"Schwaab","sequence":"additional","affiliation":[{"name":"Haematology and Oncology Medical Faculty Mannheim Heidelberg University Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-03-1320"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.13346"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-05-579136"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41408-019-0175-y"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2018-12-890889"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2017.76.4886"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-018-0107-z"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-013-1988-6"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-08-238956"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-07-099184"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.2147\/OTT.S287944"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2010.06.017"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404854"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1343890"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2020.05.005"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2008.070061"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-09-731893"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0145-2126(01)00038-8"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-01-764423"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2007.01807.x"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.19.00640"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2016.190"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.25371"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-3026(19)30166-8"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2015.284"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-019-0450-8"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-04-496448"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(16)30558-7"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.119545"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-02-414631"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2017.234"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1513098"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1159\/000305552"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0145-2126(01)00021-2"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/eci.12607"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-013-1964-1"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2402329"},{"key":"e_1_2_8_39_1","doi-asserted-by":"crossref","first-page":"2016","DOI":"10.1159\/isbn.978-3-318-05979-3","volume-title":"ISCN: An international system for human cytogenomic nomenclature","author":"McGowan\u2010Jordan J","year":"2016"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2015.4"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20122976"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.17567","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/bjh.17567","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.17567","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T23:43:16Z","timestamp":1692574996000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.17567"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":40,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1111\/bjh.17567"],"URL":"https:\/\/doi.org\/10.1111\/bjh.17567","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"2021-03-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}