{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:03:08Z","timestamp":1780099388018,"version":"3.54.0"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T00:00:00Z","timestamp":1559347200000},"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":[[2019,8,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Myelofibrosis (MF) is characterized by a presence of an extra fibrous tissue in the bone marrow and additional hematopoiesis. The somatic mutation in the Janus kinase 2 (\n                    <jats:italic>JAK2<\/jats:italic>\n                    ) gene (V617F) occurs gradually and is detected in about 50.0% of myelofibrosis or essential thrombo-cytopenia (ET) patients. Our aim was to determine the genotype status according to the carriers of the V617F mutation in patients with MF at the Hematology Ward of the University Hospital \"Ivan Rilski\" in Sofia, Bulgaria. DNA samples were isolated from venous blood of patients with various hematological disorders. DNA was amplified by polymerase chain reaction (PCR) and subsequent restriction analysis was performed using a\n                    <jats:italic>Bsa<\/jats:italic>\n                    XI restriction enzyme. The genotype status was determined on 2.0% agarose gel. We analyzed 38 patients initially suspected of carrying MF or osteomyelofibrosis (OMF). After trepanobiopsy, 20 out of 38 patients were confirmed as myelofibrotic (52.6%), 5\/38 (13.2%) were diagnosed as ET, 1\/38 (2.6%) was diagnosed as myeloproliferative neoplasm (MPN), 6\/38 (15.8%) had polycythemia vera (PV). In six patients, the presence of disease was rejected. Patients with MF were divided into three groups according to the\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F genotype status: homozygous for the mutation (3\/20 or 15.0%), heterozygous (9\/20 or 45.0%) and homozygous for the wild type allele (8\/20 or 40.0%). The triggering factor of MF is still unknown. It was considered that this factor could have a genetic nature. Mutations in three genes were mainly accepted as an actual predisposing events to this disease: point mutations leading to amino acid substitutions in\n                    <jats:italic>JAK2<\/jats:italic>\n                    (V617F) and in\n                    <jats:italic>MPL<\/jats:italic>\n                    (W515L, W515K), as well as insertion or deletion in\n                    <jats:italic>CALK<\/jats:italic>\n                    We have proven that carriers of the V617F mutation prevailed in the group of patients with MF (altogether 12 patients or 60.0%). Previous studies also showed that\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F is present in more than half of MF patients within their blood-forming cells. Therefore, the risk of evolution to MF could be associated with V617F-mutant allele burden in patients with MPN.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2019-0007","type":"journal-article","created":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T05:04:26Z","timestamp":1566968666000},"page":"57-60","source":"Crossref","is-referenced-by-count":1,"title":["Janus kinase V617F mutation detection in patients with myelofibrosis"],"prefix":"10.2478","volume":"22","author":[{"given":"D","family":"Nikolova","sequence":"first","affiliation":[{"name":"Department of Medical genetics, Medical Faculty, Medical University Sofia , Sofia , Bulgaria"},{"name":"Clinic of Hematology and Oncology, University Hospital \"St. Ivan Rilski,\" Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Yordanov","sequence":"additional","affiliation":[{"name":"Clinic of Hematology and Oncology, University Hospital \"St. Ivan Rilski,\" Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Damyanova","sequence":"additional","affiliation":[{"name":"Department of Medical genetics, Medical Faculty, Medical University Sofia , Sofia , Bulgaria"},{"name":"Clinic of Hematology and Oncology, University Hospital \"St. Ivan Rilski,\" Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Radinov","sequence":"additional","affiliation":[{"name":"Clinic of Hematology and Oncology, University Hospital \"St. Ivan Rilski,\" Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Toncheva","sequence":"additional","affiliation":[{"name":"Department of Medical genetics, Medical Faculty, Medical University Sofia , Sofia , Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2019,8,28]]},"reference":[{"key":"2026052923500754700_j_bjmg-2019-0007_ref_001_w2aab3b7b6b1b6b1ab1b5b1Aa","unstructured":"Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th ed. Lyon, France: International Agency for Research on Cancer, 2008."},{"key":"2026052923500754700_j_bjmg-2019-0007_ref_002_w2aab3b7b6b1b6b1ab1b5b2Aa","doi-asserted-by":"crossref","unstructured":"Rumi E, Pietra D, Pascutto C, Guglielmelli P, Martinez-Trillos A, Casetti I, et al. Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood. 2014; 124(7): 1062-1069.10.1182\/blood-2014-05-57843524986690","DOI":"10.1182\/blood-2014-05-578435"},{"key":"2026052923500754700_j_bjmg-2019-0007_ref_003_w2aab3b7b6b1b6b1ab1b5b3Aa","doi-asserted-by":"crossref","unstructured":"Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, et al. 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