In:
Mediterranean Journal of Hematology and Infectious Diseases, Hematology Section, Dept. of Radiological Science and Hematology, Catholic University, Rome, Italy, Vol. 12, No. 1 ( 2020-04-27), p. e2020022-
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
2035-3006
DOI:
10.4084/mjhid.2020.022
Language:
Unknown
Publisher:
Hematology Section, Dept. of Radiological Science and Hematology, Catholic University, Rome, Italy
Publication Date:
2020
detail.hit.zdb_id:
2674750-9