Research Information System
CLINICAL & TRANSLATIONAL ONCOLOGY, vol.19, no.7, pp.874-883, 2017 (SCI-Expanded, Scopus)
Background Essential thrombocythemia (ET) is a benign disease with slow progress in which thrombosis is a cause of mortality. JAK2(V617F) and calreticulin (CALR) are the most frequent mutations in this disease. In this systematic review and meta-analysis, we compared the prevalence of JAK2(V617F) and CALR mutations in ET and examined the incidence of thrombosis and other hematologic indices. Methods After choosing MeSH keywords, including essential thrombocythemia, JAK2(V617F), calreticulin, prognosis, and diagnosis, as well as searching Medline/PubMed and Scopus, 12 papers were selected. Data were pooled, and summary prevalence and OR were estimated using either a random-effects model or a fixed-effects model. Results The frequency of JAK2(V617F) and CALR shows heterogeneity in Caucasian population [JAK2(V617F) I-2% = 84.3, P<0.001, 95% CI 0.56 (0.51-0.61)], [CALR I-2% = 96.1, P<0.001, 95% CI 0.23 (0.15-0.31)]. The prevalence of JAK2(V617F) and CALR was 0.57 (95% CI 0.53-0.61), I-2% = 79.3 and 0.22 (95% CI 0.16-0.27), I-2% = 94, respectively. JAK2(V617F) positive ET was associated with increasing odds of thrombosis [OR 2.35 (95% CI 1.83-3.02), P<0.001]. The incidence of splenomegaly was not statistically different between these two mutations. Hemoglobin, platelet, and WBC count did not affect the risk of thrombosis. Conclusions Detection of CALR mutation is helpful for molecular diagnosis of ET patients as well as JAK2(V617F). Due to reduction of thrombosis in CALR-positive patients, it can be stated that such patients have less thrombotic disorders and better prognosis relative to patients bearing JAK2(V617F) mutation. Therefore, detection of mutation in CALR and JAK2(V617F) may contribute to diagnosis and prognosis of ET patients.