Akademik Veri Yönetim Sistemi
Uluslararası Hematoloji-Onkoloji Dergisi, cilt.32, sa.2, ss.75-80, 2022 (SCI-Expanded)
Calreticulin (CALR) is a multifunctional protein. CALR gene mutations are one of the driver mutations in cases with essential thrombo- cythemia (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 thrombopoi- etin 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.