Calreticulin Mutations in Philadelphia Chromosome Negative Myeloproliferative Neoplasms

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dc.authoridErkurt, Mehmet Ali/0000-0002-3285-417X
dc.authoridGozukara Bag, Harika Gozde/0000-0003-1208-4072
dc.authorwosidErkurt, Mehmet Ali/ABI-7232-2020
dc.authorwosidGozukara Bag, Harika Gozde/ABG-7588-2020
dc.contributor.authorGulbay, Gonca
dc.contributor.authorBar, Harika Gozukara
dc.contributor.authorYesilada, Elif
dc.contributor.authorErkurt, Mehmet Ali
dc.date.accessioned2024-08-04T20:10:11Z
dc.date.available2024-08-04T20:10:11Z
dc.date.issued2022
dc.departmentİnönü Üniversitesien_US
dc.description.abstractCalreticulin (CALR) is a multifunctional protein. CALR gene mutations are one of the driver mutations in cases with essential thrombocythemia (ET) and primary myelofibrosis (PMF). The aim of this study is to comprehend the functional relationship of CALR type1 and type2 mutations in the pathogenesis of Phi-ladelphia Chromosome Negative Myeloproliferative Neop-lasms (MPNs) by emphasizing the incidence, biological and clinical features of CALR mutations in Janus Kinase2 (JAK2) V617F mutation negative and thrombopoietin receptor gene (MPL) mutation negative ET and PMF cases, and to determine their effect on the disease phenotype. The laboratory results of cases analyzed with essential throm-bocythemia and primary myelofibrosis were analyzed retros-pectively. In our study of the ET cases, 18.4% CALR exon9 mutation car-ried, 5.1% a thrombopoietin receptor gene (MPL) mutation, and 57.1% JAK2 V617F mutation. 19.4% of our cases do not carry any of these three mutations. Our ET patients with CALR muta-tion positive, 61.1% have type1, 27.8% have type2 and 11.1% have mutations other than type1 and type2. In our study of the PMF cases, 27.7% CALR exon9 mutation carried, 3.6% a MPL mutation, and 47% JAK2 V617F muta-tion. 21.7% cases are triple negative. Our PMF patients with CALR mutation positive, 69.6% have type1, 30.4% have type2 mutations. CALR mutations are a new and important molecular marker for Philadelphia chromosome negative myeloproliferative neoplasm cases. Longer follow-up and larger case populations are required to investigate the effects of clinical and laboratory pa-rameters of diseases.en_US
dc.identifier.doi10.4999/uhod.225925
dc.identifier.endpage80en_US
dc.identifier.issn1306-133X
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-85130354400en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage75en_US
dc.identifier.trdizinid1177602en_US
dc.identifier.urihttps://doi.org/10.4999/uhod.225925
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/1177602
dc.identifier.urihttps://hdl.handle.net/11616/92648
dc.identifier.volume32en_US
dc.identifier.wosWOS:000798190600002en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.publisherAkad Doktorlar Yayinevien_US
dc.relation.ispartofUhod-Uluslararasi Hematoloji-Onkoloji Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCalreticulin geneen_US
dc.subjectMutationen_US
dc.subjectPhiladelphia chromosome negative myeloproliferative neoplasmen_US
dc.titleCalreticulin Mutations in Philadelphia Chromosome Negative Myeloproliferative Neoplasmsen_US
dc.typeArticleen_US

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