Open AccessCalreticulin mutation survey by high resolution melting method associated with unique presentations in essential thrombocythemic patients
Author(s) -
Yi-Chang Liu,
Ching-Ping Lee,
Tsung-Jang Yeh,
Yuh-Ching Gau,
ChiehYu Hsieh,
YaLun Ke,
Jeng-Shiun Du,
Meixia Lin,
HuiChing Wang,
ShihHao Tang,
ShihFeng Cho,
Chi-En Hsiao,
JenFu Hsu,
Samuel Yien Hsiao,
ChinMu Hsu,
Hui-Hua Hsiao
Publication year - 2020
Publication title -
mediterranean journal of hematology and infectious diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.682
H-Index - 31
ISSN - 2035-3006
DOI - 10.4084/mjhid.2020.022
Subject(s) - calreticulin , high resolution melt , essential thrombocythemia , medicine , mutation , exon , gene mutation , gastroenterology , gene , polymerase chain reaction , genetics , platelet , biology , endoplasmic reticulum
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.