Calreticulin mutation survey by high resolution melting method associated with unique presentations in essential thrombocythemic patients CALR mutation survey by HRM in ET patients

• Published in: Mediterranean journal of hematology and infectious diseases Vol. 12; no. 1; p. e2020022
• Main Authors: Liu, Yi-Chang, Lee, Ching-Ping, Yeh, Tsung-Jang, Gau, Yuh-Ching, Hsieh, Chieh-Yu, Ke, Ya-Lun, Du, Jeng-Shiun, Lin, Ming-Hui, Wang, Hui-Ching, Tang, Shih-Hao, Cho, Shih-Feng, Hsu, Jui-Feng, Hsiao, Samuel Yien, Hsu, Chin-Mu, Hsiao, Hui-Hua
• Format: Journal Article
• Language: English
• Published: 27.04.2020
• ISSN: 2035-3006; 2035-3006
• DOI: 10.4084/mjhid.2020.022

Somatic mutations of exon 9 of calreticulin gene (CALR) were diagnosis and prognosis importance found in patients with JAK2V617F-negative essential thrombocythemia (ET). We survey CALR and JAK2 mutations in our ET patients and study the relationship between mutations and clinical presentations. A total of 60 ET patients were enrolled in the study, and CALR mutations were studied by high resolution melting (HRM) methods and sequencing in JAK2V617F-negative group retrospectively. Clinical manifestations were reviewed retrospectively from chart records. Twenty-one CALR mutations showed eight types of specific melting curves detected by the HRM method and sequencing validation among 26 JAK2 V617F-negative patients. Compared with JAK2 mutations, patients with CALR mutations were younger and had a higher platelet count, lower white cell counts, and lower hemoglobin levels significantly (p<0.05). From our study, HRM methods revealed unique curve types in screening for CALR mutations screening even for complicated mutations. The mutations can be identification rapidly, and cost-effectively by HRM method than other tools. The clinical presentations of CALR mutations from JAK2 mutations showed significant differences and should be checked in ET patients.