{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T19:36:39Z","timestamp":1783971399750,"version":"3.55.0"},"reference-count":12,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2020,10,7]]},"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:p>\n                    Essential thrombocythaemia (ET) is driven by somatic mutations involving the\n                    <jats:italic>JAK2<\/jats:italic>\n                    ,\n                    <jats:italic>CALR<\/jats:italic>\n                    and\n                    <jats:italic>MPL<\/jats:italic>\n                    genes. Approximately 10% of patients lack driver mutations and are referred as \u2018triple-negative\u2019 ET (TN-ET). The diagnosis of TN-ET, however, relies on bone marrow examination that is not always performed in routine practice, and thus in the real-world setting, there are a group of cases with suspected TN-myeloproliferativeneoplasm.\n                  <\/jats:p>\n                  <jats:p>\n                    In this real-world cohort, patients with suspected TN-ET were initially rescreened for\n                    <jats:italic>JAK2<\/jats:italic>\n                    ,\n                    <jats:italic>CALR<\/jats:italic>\n                    and\n                    <jats:italic>MPL<\/jats:italic>\n                    and then targeted next-generation sequencing (NGS) was applied.\n                  <\/jats:p>\n                  <jats:p>\n                    The 35 patients with suspected TN-ET had a median age at diagnosis of 43 years (range 16\u201379) and a follow-up of 10 years (range 2\u201328). The median platelet count was 758\u00d710\n                    <jats:sup>9<\/jats:sup>\n                    \/L (range 479\u20132903). Thrombosis prior to and following diagnosis was noted in 20% and 17% of patients. Six patients were\n                    <jats:italic>JAK<\/jats:italic>\n                    2V617F and two patients were\n                    <jats:italic>CALR<\/jats:italic>\n                    positive on repeat screening. NGS results showed that 24 of 27 patients harboured no mutations. Four mutations were noted in three patients.\n                  <\/jats:p>\n                  <jats:p>There was no evidence of clonality for the majority of patients with suspected TN-ET with targeted NGS analysis. Detection of driver mutations in those who were previously screened suggests that regular rescreening is required. This study also questions the diagnosis of TN-ET without the existence of a clonal marker.<\/jats:p>","DOI":"10.1136\/jclinpath-2020-206570","type":"journal-article","created":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T17:20:42Z","timestamp":1604424042000},"page":"808-811","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":19,"title":["Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort"],"prefix":"10.1136","volume":"74","author":[{"given":"Olga","family":"Michail","sequence":"first","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"McCallion","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"McGimpsey","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Hindley","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2333-1374","authenticated-orcid":false,"given":"Graeme","family":"Greenfield","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roisin","family":"McAllister","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Feerick","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Arnold","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Cross","sequence":"additional","affiliation":[{"name":"Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Cuthbert","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0773-0204","authenticated-orcid":false,"given":"Mary F","family":"McMullin","sequence":"additional","affiliation":[{"name":"Centre for Medical Education, Queen\u2019s University Belfast, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8219-4651","authenticated-orcid":false,"given":"Mark A","family":"Catherwood","sequence":"additional","affiliation":[{"name":"Department of Clinical Haematology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,11,3]]},"reference":[{"key":"2025112109404810000_74.12.808.1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-03-530865"},{"key":"2025112109404810000_74.12.808.2","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1001\/jamaoncol.2015.89","article-title":"Myeloproliferative neoplasms: a contemporary review","volume":"1","author":"Tefferi","year":"2015","journal-title":"JAMA Oncol"},{"key":"2025112109404810000_74.12.808.3","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-07-661983"},{"key":"2025112109404810000_74.12.808.4","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12986"},{"key":"2025112109404810000_74.12.808.5","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1007\/s11845-019-02100-w","article-title":"A molecular diagnostic algorithm for JAK2 V617F investigations in suspected myeloproliferative neoplasms","volume":"189","author":"Catherwood","year":"2020","journal-title":"Ir J Med Sci"},{"key":"2025112109404810000_74.12.808.6","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1159\/000489006","article-title":"Absence of CALR mutations in idiopathic erythrocytosis patients with low serum erythropoietin","volume":"139","author":"Catherwood","year":"2018","journal-title":"Levels Acta Haematol"},{"key":"2025112109404810000_74.12.808.7","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-07-661835"},{"key":"2025112109404810000_74.12.808.8","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-03-631747"},{"key":"2025112109404810000_74.12.808.9","doi-asserted-by":"crossref","DOI":"10.1038\/bcj.2016.75","article-title":"Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing","volume":"6","author":"Angona","year":"2016","journal-title":"Blood Cancer 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Haematol"}],"container-title":["Journal of Clinical 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