TY - JOUR AU - Liu, Yi-Chang AU - Lee, Ching-Ping AU - Yeh, Tsung-Jang AU - Gau, Yuh-Ching AU - Hsieh, Chieh-Yu AU - Ke, Ya-Lun AU - Du, Jeng-Shiun AU - Lin, Ming-Hui AU - Wang, Hui-Ching AU - Tang, Shih-Hao AU - Cho, Shih-Feng AU - Hsu, Jui-Feng AU - Hsiao, Samuel Yien AU - Hsu, Chin-Mu AU - Hsiao, Hui-Hua PY - 2020/04/27 Y2 - 2024/03/29 TI - Calreticulin mutation survey by high resolution melting method associated with unique presentations in essential thrombocythemic patients: CALR mutation survey by HRM in ET patients JF - Mediterranean Journal of Hematology and Infectious Diseases JA - Mediterr J Hematol Infect Dis VL - 12 IS - 1 SE - Scientific Letters DO - 10.4084/mjhid.2020.022 UR - https://www.mjhid.org/mjhid/article/view/2020.022 SP - e2020022 AB - <p>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.</p><p>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.</p><p>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 (<em>p</em>&lt;0.05).</p><p>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.</p> ER -