{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:45:59Z","timestamp":1777329959823,"version":"3.51.4"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The identification of the JAK2V617F mutation in several distinct myeloproliferative neoplasms (MPNs) raised the question how one single mutation incites expression of at least three different clinical phenotypes,\n                    <jats:italic>i.e<\/jats:italic>\n                    ., polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In order to further evaluate already published data on the correlation between mutant JAK2V617F allele burden and specific hematological and clinical parameters, we tested the level of the JAK2 mutation in 134 JAK2+ patients with different MPNs. The patients were diagnosed according to the 2008 WHO criteria and followed for a median of 48 months. The JAK2 V617F quantification was done with a real time polymerase chain reaction (real time-PCR) method. The median allele burden was lowest in ET (25.8%), followed by 34.6% in PV and 51.8% in PMF patients (\n                    <jats:italic>p<\/jats:italic>\n                    &lt;0.01). There was statistically significant association between the mutational load of 10.0-50.0% and blood count parameters in the PV patients (\n                    <jats:italic>p<\/jats:italic>\n                    &lt;0.05). In PMF patients the mutational load was in correlation with older age and leukocyte count that were higher in patients with the mutational load of 10.0-50.0% and &gt;50.0% compared to those with a mutational load of &lt;10.0%. There were no statistically significant associations between the allele burden and blood counts in the ET cohort. Our study confirmed an association between the JAK2V617F allele burden and the distinct MPN phenotypes, indicating unfavorable prognosis in patients with a higher JAK2 allele burden. Our results suggest that JAK2 quantification should be incorporated in the diagnostic work-up of MPN patients as a useful tool for optimal treatment decision.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2019-0021","type":"journal-article","created":{"date-parts":[[2019,12,22]],"date-time":"2019-12-22T04:04:25Z","timestamp":1576987465000},"page":"31-36","source":"Crossref","is-referenced-by-count":5,"title":["Evaluation of the JAK2V617F mutational burden in patients with philadelphia chromosome negative myeloproliferative neoplasms: A single-center experience"],"prefix":"10.2478","volume":"22","author":[{"given":"M","family":"Popova-Labachevska","sequence":"first","affiliation":[{"name":"University Clinic of Hematology, UKIM-Faculty of Medicine, University \u201cSs Cyril and Methodius,\u201d Skopje , RN Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Panovska-Stavridis","sequence":"additional","affiliation":[{"name":"University Clinic of Hematology, UKIM-Faculty of Medicine, University \u201cSs Cyril and Methodius,\u201d Skopje , RN Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Eftimov","sequence":"additional","affiliation":[{"name":"Center for Biomolecular Pharmaceutical Analyses, UKIM-Faculty of Pharmacy, University \u201cSs Cyril and Methodius,\u201d Skopje , RN Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nestorovska A","family":"Kapedanovska","sequence":"additional","affiliation":[{"name":"Center for Biomolecular Pharmaceutical Analyses, UKIM-Faculty of Pharmacy, University \u201cSs Cyril and Methodius,\u201d Skopje , RN Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Cevreska","sequence":"additional","affiliation":[{"name":"University Clinic of Hematology, UKIM-Faculty of Medicine, University \u201cSs Cyril and Methodius,\u201d Skopje , RN Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Ivanovski","sequence":"additional","affiliation":[{"name":"University Clinic of Hematology, UKIM-Faculty of Medicine, University \u201cSs Cyril and Methodius,\u201d Skopje , RN Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Ridova","sequence":"additional","affiliation":[{"name":"University Clinic of Hematology, UKIM-Faculty of Medicine, University \u201cSs Cyril and Methodius,\u201d Skopje , RN Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Trajkova","sequence":"additional","affiliation":[{"name":"University Clinic of Hematology, UKIM-Faculty of Medicine, University \u201cSs Cyril and Methodius,\u201d Skopje , RN Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AJ","family":"Dimovski","sequence":"additional","affiliation":[{"name":"Center for Biomolecular Pharmaceutical Analyses, UKIM-Faculty of Pharmacy, University \u201cSs Cyril and Methodius,\u201d Skopje , RN Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,12,21]]},"reference":[{"key":"2026042718403935014_j_bjmg-2019-0021_ref_001","doi-asserted-by":"crossref","unstructured":"Barbui T, Thiele J, Gisslinger H, Kvasnicka HM, Vannucchi AM, Guglielmelli P, et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion. Blood Cancer J. 2018; 8(2): 15-25.","DOI":"10.1038\/s41408-018-0054-y"},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_002","doi-asserted-by":"crossref","unstructured":"Vannucchi AM, Harrison CN. Emerging treatment for classical myeloproliferative neoplasms. Blood. 2017; 129(6): 693-703.","DOI":"10.1182\/blood-2016-10-695965"},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_003","doi-asserted-by":"crossref","unstructured":"Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005; 352(17): 1779-1790.","DOI":"10.1056\/NEJMoa051113"},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_004","unstructured":"Singdong R, Siriboonpiputtana T, Chareonsiri-suthigul T, Kongruang A, Limsuwanachot N, Sirirat T, et al. Characterisation and prognosis significance of JAK2 (V617F), MPL and CALR mutations in Philadelphia negative myeloproliferative neoplasms. Asian Pac J Cancer Prev. 2016; 17(10): 4647-4653."},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_005","doi-asserted-by":"crossref","unstructured":"Alshemmari SH, Rajaan R, Ameen R, Al-Drees MA, Almosailleakh MR. JAK2V617F allele burden in patients with myeloproliferative neoplasms. Ann Hematol. 2014; 93(5): 791-796.","DOI":"10.1007\/s00277-013-1988-6"},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_006","doi-asserted-by":"crossref","unstructured":"Perricone M, Polverelli N, Martinelli G, Catani L, Ottaviani E, Zuffa E, et al. The relevance of a low JAK2 V617F allele burden in clinical practice: A monocentric study. Oncotarget. 2017; 8(23): 37239-37249.","DOI":"10.18632\/oncotarget.16744"},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_007","doi-asserted-by":"crossref","unstructured":"Ha, JS, Kim YK, Jung SI, Jung HR, Chung, IS. Correlations between Janus Kinase 2V617F allele burdens and clinicohematologic parameters in myeloproliferative neoplasms. Ann Lab Med. 2012; 32(6): 385-391.","DOI":"10.3343\/alm.2012.32.6.385"},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_008","doi-asserted-by":"crossref","unstructured":"Jovanovic JV, Ivey A, Vannucchi AM, Lippert E, Oppliger Leibundgut E, et al. Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F-associated myeloproliferative neoplasms: A joint European LeukemiaNet MPN&MPNr-EuroNet (COST action BM0902) study. Leukemia. 2013; 27(10): 2032-2039.","DOI":"10.1038\/leu.2013.219"},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_009","unstructured":"Malysz J, Crisan D. Correlation of JAK2 V617F mutant allele quantification with clinical presentation and type of chronic myeloproliferative neoplasm. Ann Clin Lab Sci. 2009; 39(4): 345-350."},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_010","doi-asserted-by":"crossref","unstructured":"Antonioli E, Guglielmelli P, Poli G, Bogani C, Pancrazzi A, Longo G, et al. Influence of JAK2V617F allele burden on phenotype in essential thrombocythemia. Haematologica. 2008; 93(1): 41-48.","DOI":"10.3324\/haematol.11653"},{"key":"2026042718403935014_j_bjmg-2019-0021_ref_011","doi-asserted-by":"crossref","unstructured":"Silver RT, Vandris K, Wang YL, Adriano F, Jones AV, Christos PJ, et al. JAK2V617F allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. Leukemia Res. 2011; 35(2): 177-182.","DOI":"10.1016\/j.leukres.2010.06.017"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/content.sciendo.com\/view\/journals\/bjmg\/22\/2\/article-p31.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2019-0021","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:14:08Z","timestamp":1777328048000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2019-0021"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,1]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,12,21]]},"published-print":{"date-parts":[[2019,12,21]]}},"alternative-id":["10.2478\/bjmg-2019-0021"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2019-0021","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,1]]}}}