{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:07:27Z","timestamp":1791295647342,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,2,11]],"date-time":"2010-02-11T00:00:00Z","timestamp":1265846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Approximately 50% of essential thrombocythaemia and primary myelo\u2010fibrosis patients do not have a <jats:italic>JAK2<\/jats:italic> V617F mutation. Up to 5% of these are reported to have a <jats:italic>MPL<\/jats:italic> exon 10 mutation but testing for <jats:italic>MPL<\/jats:italic> is not routine as there are multiple mutation types. The ability to routinely assess both <jats:italic>JAK2<\/jats:italic> and <jats:italic>MPL<\/jats:italic> mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis. We developed and applied a high resolution melt (HRM) assay, capable of detecting all known <jats:italic>MPL<\/jats:italic> mutations in a single analysis, for the detection of <jats:italic>MPL<\/jats:italic> exon 10 mutations. We assessed 175 ET and PMF patients, including 67 that were <jats:italic>JAK2<\/jats:italic> V617F\u2010negative by real time polymerase chain reaction (PCR). Overall, 19\/175 (11%) patients had a <jats:italic>MPL<\/jats:italic> exon 10 mutation, of whom 16 were <jats:italic>JAK2<\/jats:italic> V617F\u2010negative (16\/67; 24%). <jats:italic>MPL<\/jats:italic> mutation types were W515L (11), W515K (4), W515R (2) and W515A (1). One patient had both W515L and S505N <jats:italic>MPL<\/jats:italic> mutations and these were present in the same haemopoietic colonies. Real time PCR for <jats:italic>JAK2<\/jats:italic> V617F analysis and HRM for <jats:italic>MPL<\/jats:italic> exon 10 status identified one or more clonal marker in 71% of patients. This combined genetic approach increases the sensitivity of meeting the World Health Organization diagnostic criteria for these myeloproliferative neoplasms.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2010.08083.x","type":"journal-article","created":{"date-parts":[[2010,2,12]],"date-time":"2010-02-12T02:45:46Z","timestamp":1265942746000},"page":"250-257","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":98,"title":["Clinical utility of routine <i>MPL<\/i> exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis"],"prefix":"10.1111","volume":"149","author":[{"given":"Elaine M.","family":"Boyd","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Bench","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Goday\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubha","family":"Anand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishna J.","family":"Vaghela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip","family":"Beer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike A.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Bareford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony R.","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Huntly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy N.","family":"Erber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,3,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","first-page":"2690","DOI":"10.1182\/blood.V88.7.2690.bloodjournal8872690","article-title":"Interstitial deletion constitutes the major mechanism for loss of heterozygosity on chromosome 20q in polycythemia vera","volume":"88","author":"Asimakopoulos F.A.","year":"1996","journal-title":"Blood"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)71142-9"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-01-131664"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07560.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-05-089003"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2008.137"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-10-3471"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2007.06565.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07671.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-01-136499"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03546"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.12883"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa051113"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-6-295"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06348.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2005.03.023"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-04-018879"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1634\/stemcells.2007-0175"},{"key":"e_1_2_7_20_1","first-page":"7","article-title":"MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia","volume":"2006","author":"Pikman Y.","year":"2006","journal-title":"PLoS Medicine"},{"key":"e_1_2_7_21_1","first-page":"365","volume-title":"Bioinformatics Methods and Protocols: Methods in Molecular Biology","author":"Rozen S.","year":"2000"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.13224"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2007.06806.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2006.066886"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-06-2600"},{"key":"e_1_2_7_26_1","volume-title":"WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues","author":"Swerdlow S.H.","year":"2008"},{"key":"e_1_2_7_27_1","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1756-8722-1-10","article-title":"Detection of NPM1 exon 12 mutations and FLT3 \u2010 internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia","volume":"29","author":"Tan A.Y.","year":"2008","journal-title":"Journal of Hematology and Oncology"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-01-135897"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exphem.2007.08.010"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2141.2010.08083.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2141.2010.08083.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T02:56:53Z","timestamp":1697425013000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2141.2010.08083.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,22]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1111\/j.1365-2141.2010.08083.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2141.2010.08083.x","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,22]]},"assertion":[{"value":"2010-03-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}