Estimation of diagnosis and prognosis in ET by assessment of CALR and JAK2V617F mutations and laboratory findings: a meta-analysis

• Published in: Clinical & translational oncology Vol. 19; no. 7; pp. 874 - 883
• Main Authors: Saki, N., Shirzad, R., Rahim, F., Saki Malehi, A.
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.07.2017
• Subjects: Medicine; Medicine & Public Health; Oncology; Research Article; Essential thrombocythemia; Calreticulin; Prognosis; Diagnosis; JAK2; Thrombosis; Meta-analysis
• ISSN: 1699-048X; 1699-3055
• DOI: 10.1007/s12094-017-1618-1

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 V617 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.