Determining Clinical Correleation of CALR Type 1 and CALR Type 2 Gene Mutations In Chronic Myeloproliferative Disease Cases

Author : Miray Yaman - Duygu Aygüneş, Burçin Kaymaz, Buket Kosova, Fahri Şahin, Güray Saydam
Number of pages : 84-89

Abstract

Chronic myeloproliferative diseases (CMPD) are clonal hematopoietic disorders, with cellular proliferation, where one or more of the hematopoietic cells often undergo differentiation and maturation. In the Philedelphia (Ph) (-) CMPD group, the most common ones are polistemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In CMPD patients, CALR (Calreticulin) mutations have been identified. In this study, identification of CALR mutations in Ph (-) CMPD patients and the effects of the presence of CALR mutations on the clinical findings of patients were investigated. A total of 76 Ph (-) CMPD cases including 35 ET, 1 PMF, 4 POST-PV, 4 POST-ET MF and 32 PV were included in the study. CALR mutations were studied using DNA sequence analysis method using DNAs isolated from venous blood of patients diagnosed with CMPD. In patients with PMF, reticulin fiber increase was found higher. Splenomegaly-correlated with disease stage was higher in PMF and PV cases, and 19.7% of cases had thromboembolic events, primarily MI, SVO, Budd Chiari and DVT. There was no significant difference between groups in terms of survival. The JAK2 mutation was evaluated in 45 cases with a 20% JAK2V617F mutation in ET, 3% in PV and 33.3% in PMF (p> 0.05). No JAK2 mutation was detected in 76 cases evaluated for CALR type 1 and CALR type 2 mutations. In JAK 2 (-) ET and PMF patients, CALR mutations were not detected. Between two mutations, the rate of type1 CALR mutation is 45-50%, while type 2 is 32-41% in the population.

Keywords

Calretucilin, CMPD, JAK2, Ph (-)

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