{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:31:46Z","timestamp":1787841106991,"version":"build-2784847793"},"reference-count":36,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,7]]},"abstract":"\n Background:<\/jats:title>\n \n Mutations in JAK2\/STAT5 proliferation pathway genes are key in the diagnosis of myeloproliferative neoplasms (MPN\n BCR\/ABLneg<\/jats:sup>\n ), with\n JAK2V617F<\/jats:italic>\n being found in 50-97% of MPN\n BCR\/ABLneg<\/jats:sup>\n subtypes. Low\n JAK2V617F<\/jats:italic>\n positivity at our facility suggested that our South African MPN\n BCR\/ABLneg<\/jats:sup>\n population may have a different mutational landscape.\n <\/jats:p>\n <\/jats:sec>\n \n Objectives:<\/jats:title>\n \n We aimed to determine the JAK2\/STAT5 mutation frequencies associated with our local MPN\n BCR\/ABLneg<\/jats:sup>\n population, thus determining the relevance of these molecular tests in this group. We also investigated the haemato- pathological relevance of each test request, to assess testing practises.\n <\/jats:p>\n <\/jats:sec>\n \n Method:<\/jats:title>\n \n This study involved the retrospective audit of 886 patients for whom\n JAK2V617F<\/jats:italic>\n mutation testing had been requested for a suspected MPN diagnosis. FBC indices, erythropoietin levels and bone marrow biopsy results were used to classify the patients.\n JAK2V617F<\/jats:italic>\n negatlve<\/jats:sup>\n patient DNA was tested for calreticulin\n (CALR)<\/jats:italic>\n exon9, myeloproliferative leukaemia protein\n (MPL)<\/jats:italic>\n codon515 and\n JAK2<\/jats:italic>\n exon12 mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n Only 23% of the patients demonstrated\n JAK2V617F<\/jats:italic>\n positivity, with an additional 29 cases of\n CALR\/MPL<\/jats:italic>\n mutations being detected. Mutations were only detected in patients with abnormal FBC indices, as expected, yet 37% of the test requests were not associated with abnormal parameters at the time of testing. Mutation frequencies were as follows: Polycythaemia Vera: 97%\n JAK2V617F\/3% (JAK2,CALR,MPL)<\/jats:italic>\n triple negative; Essential thrombocythemia: 72%\n JAK2V617F\/23%CALR\/5%triple<\/jats:italic>\n negative; Primary Myelofibrosis: 78%JAK2V617F\/16%CALR\/6%triple negative.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n Our study demonstrated that our MPN\n BCR\/ABLneg<\/jats:sup>\n patients have a similar genetic landscape to other MPN populations, with >93% being able to be diagnosed by testing for the\n JAK2V617F<\/jats:italic>\n and\n CALR<\/jats:italic>\n exon9 mutations alone. Adoption of the WHO 2016 guidelines is recommended to guide testing practices.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.56875\/2589-0646.1064","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T04:10:55Z","timestamp":1680581455000},"page":"291-302","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["JAK2\/STAT5 Pathway Mutation Frequencies in South African BCR\/ABL Negative MPN Patients"],"prefix":"10.4103","volume":"16","author":[{"given":"Karen L.","family":"Shires","sequence":"first","affiliation":[{"name":"Division of Haematology, Department of Pathology, Faculty of Health Science, University of Cape Town, South Africa"},{"name":"Division of Haematology, National Health Laboratory Service\/Groote Schuur Hospital, Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana J.","family":"Rust","sequence":"additional","affiliation":[{"name":"Division of Haematology, National Health Laboratory Service\/Groote Schuur Hospital, Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rushil","family":"Harryparsad","sequence":"additional","affiliation":[{"name":"Division of Haematology, Department of Pathology, Faculty of Health Science, University of Cape Town, South Africa"},{"name":"Division of Medical Virology, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin A.","family":"Coburn","sequence":"additional","affiliation":[{"name":"Faculty of Science, University of Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth E.","family":"Gopie","sequence":"additional","affiliation":[{"name":"Division of Haematology, Department of Pathology, Faculty of Health Science, University of Cape Town, South Africa"},{"name":"Division of Haematology, National Health Laboratory Service\/Groote Schuur Hospital, Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,4,4]]},"reference":[{"key":"R1-20241211","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1182\/blood-2009-03-209262","article-title":"The 2008 revision of the WHO classification of myeloid neoplasms and acute leukemia: rationale and important changes","volume":"114","author":"Vardiman","year":"2009","journal-title":"Blood"},{"issue":"20","key":"R2-20241211","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1182\/blood-2016-03-643544","article-title":"The 2016 revision to the World Health Or-ganization classification of myeloid neoplasms and acute leukemia","volume":"127","author":"Arber","year":"2016","journal-title":"Blood"},{"issue":"Suppl 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