{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T02:29:23Z","timestamp":1784946563023,"version":"3.55.0"},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"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":[[2021,3,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Acute myeloid leukemia (AML) was first categorized in 1976 by French, American and British researchers, and divided into eight subgroups (M0 to M7), depending on the cytochemical or histological changes in the leukemic cells. The gene mutations of\n                    <jats:italic>FLT3-ITD<\/jats:italic>\n                    ,\n                    <jats:italic>CEBPA<\/jats:italic>\n                    and\n                    <jats:italic>NPM1<\/jats:italic>\n                    are the most common that cooperate together in the prognosis of AML. The\n                    <jats:italic>CEBPA<\/jats:italic>\n                    gene that is a hematopoietic transcription factor, is located on chromosome 19q13.11, and its prevalence is between 5.0 and 14.0% in AML. The patient was referred to our clinic suffering from menorrhagia, unplanned weight loss in a month and low platelet levels, and was diagnosed with AML on clinical and laboratory examination. Here, we report a patient carrying two novel pathogenic mutations that create a frameshift mutation on the\n                    <jats:italic>CEBPA<\/jats:italic>\n                    gene, c.940_941insCCGTCG TGGAGACGA CGAAGG and c.221_222delAC by Sanger sequencing methodology.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2020-0024","type":"journal-article","created":{"date-parts":[[2021,4,6]],"date-time":"2021-04-06T18:02:32Z","timestamp":1617732152000},"page":"99-102","source":"Crossref","is-referenced-by-count":2,"title":["Two novel\n                    <i>CEBPA<\/i>\n                    mutations in a Turkish patient with acute myeloid leukemia"],"prefix":"10.2478","volume":"23","author":[{"given":"PE","family":"Tokgun","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Pamukkale University , Denizli , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MT","family":"Alay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cerrahpa\u015fa University , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Atli Tekin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Pamukkale University , Denizli , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"G\u00fcler","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Hematology, Pamukkale University , Denizli , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Tokgun","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Pamukkale University , Denizli , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Demiray","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Pamukkale University , Denizli , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Karagenc","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Pamukkale University , Denizli , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Durak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Pamukkale University , Denizli , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Celik","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Hematology, Pamukkale University , Denizli , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Akca","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Pamukkale University , Denizli , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,3,23]]},"reference":[{"key":"2026042716343341897_j_bjmg-2020-0024_ref_001_w2aab3b7c31b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"De Kouchkovsky I, Abdul-Hay M. Acute myeloid leukemia: A comprehensive review and 2016 update. Blood Cancer J. 2016; 6(7): e441.","DOI":"10.1038\/bcj.2016.50"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_002_w2aab3b7c31b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Lin P, Falini B. Acute myeloid leukemia with recurrent genetic abnormalities other than translocations. Am J Clin Pathol. 2015; 144(1): 19-28.","DOI":"10.1309\/AJCP97BJBEVZEUIN"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_003_w2aab3b7c31b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Schnittger S, Schoch C, Dugas M. Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: Correlation to cytogenetics, FAB subtype, and prognosis in the AMLCG study and usefulness as a marker for the detection of minimal residual disease. Blood. 2002; 100(1): 59-67.","DOI":"10.1182\/blood.V100.1.59"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_004_w2aab3b7c31b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Li GX, Wang L, Yaghmour B, Ramshingh G, Yaghmour G. The role of FLT3 inhibitors as maintenance therapy following hematopoietic stem cell transplant. Leuk Res Rep. 2018; 10: 26-36.","DOI":"10.1016\/j.lrr.2018.06.003"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_005_w2aab3b7c31b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Thiede C, Koch S, Creutzig E, Steudel C, Illmer T, Schaich M, et al. Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML). Blood. 2006; 107(10): 4011-4020.","DOI":"10.1182\/blood-2005-08-3167"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_006_w2aab3b7c31b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Geletu M, Balkhi MY, Peer Zada AA Christopeit M, Pulikkan JA, Trivedi AK, et al. Target proteins of C\/ EB Pap30 in AML: C\/EBPap30 enhances sumoylation of C\/EB Pap42 via up-regulation of Ubc9. Blood. 2007; 110(9): 3301-3309.","DOI":"10.1182\/blood-2007-01-071035"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_007_w2aab3b7c31b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Pastore F, Kling D, Hoster E, Dufour A, Konstandin NP, Schneider S, et al. Long-term follow-up of cytogenetically normal CEBPA-mutated AML. J Hematol Oncol. 2014; 7(1): 1-8.","DOI":"10.1186\/s13045-014-0055-7"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_008_w2aab3b7c31b1b6b1ab2b2b8Aa","doi-asserted-by":"crossref","unstructured":"Leroy H, Roumier C, Huyghe P, Biggio V, Fenaux P, Preudhomme C. CEBPA point mutations in hematological malignancies. Leukemia. 2005; 19(3): 329-334.","DOI":"10.1038\/sj.leu.2403614"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_009_w2aab3b7c31b1b6b1ab2b2b9Aa","doi-asserted-by":"crossref","unstructured":"Hughes JM, Legnini I, Salvatori B, Masciarelli S, Marchioni M, Fazi F, et al. C\/EBP\u03b1-p30 protein induces expression of the oncogenic long non-coding RNA UCA1 in acute myeloid leukemia. Oncotarget. 2015; 6(21): 18534-18544.","DOI":"10.18632\/oncotarget.4069"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_010_w2aab3b7c31b1b6b1ab2b2c10Aa","doi-asserted-by":"crossref","unstructured":"Tawana K, Rio-Machin A, Preudhomme C, Fitzgibbon J. Familial CEBPA-mutated acute myeloid leukemia. Semin Hematol. 2017; 54(2): 87-93.","DOI":"10.1053\/j.seminhematol.2017.04.001"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_011_w2aab3b7c31b1b6b1ab2b2c11Aa","doi-asserted-by":"crossref","unstructured":"Kim S, Kim DH, Jang JH, Jung CW, Jang MA, Ki CS, et al. Novel mutations in CEBPA in Korean patients with acute myeloid leukemia with a normal karyotype. Ann Lab Med. 2012; 32(2): 153-157.","DOI":"10.3343\/alm.2012.32.2.153"},{"key":"2026042716343341897_j_bjmg-2020-0024_ref_012_w2aab3b7c31b1b6b1ab2b2c12Aa","doi-asserted-by":"crossref","unstructured":"Ram J, Flamm G, Balys M, Sivagnanalingam U, Rothberg PG, Iqbal A, et al. Index case of acute myeloid leukemia in a family harboring a novel CEBPA germ line mutation. Blood Adv. 2017; 1(8): 500-503.","DOI":"10.1182\/bloodadvances.2017004424"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2020-0024","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T21:36:04Z","timestamp":1777325764000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2020-0024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,1]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,3,23]]},"published-print":{"date-parts":[[2021,3,23]]}},"alternative-id":["10.2478\/bjmg-2020-0024"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2020-0024","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,1]]}}}