Progress of CALR gene mutation in myeloproliferative neoplasm
10.3760/cma.j.issn.1009-9921.2018.05.017
- VernacularTitle: 骨髓增殖性肿瘤CALR基因突变的研究进展
- Author:
Ni FAN
1
;
Xiaoping XU
;
Bobin CHEN
Author Information
1. Department of Hematology, Huashan Hospital Affiliated of Fudan University, Shanghai 200040, China
- Publication Type:Review
- Keywords:
Myeloproliferative neoplasm;
CALR mutation;
Calreticulin
- From:
Journal of Leukemia & Lymphoma
2018;27(5):315-320
- CountryChina
- Language:Chinese
-
Abstract:
Myeloproliferative neoplasm (MPN) is a kind of clone hematopoietic stem cell disease characterized by one or more myeloid cell lines hyperproliferation, including bcr-abl gene positive chronic myeloid leukemia (CML) and bcr-abl negative MPN, the later representing polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). A big stride has been made since the discovery of JAK2 and MPL gene mutations. However, the exact genetic basis of JAK2/MPL mutation double negative in MPN patients is still unclear. It has been reported recently that a new CALR mutation is discovered in the JAK2/MPL unmutated MPN patients who show unique clinical presentations, which provides a new diagnostic and prognosis-accessing criteria. The paper reviews CALR mutation and genetic mechanism mediating MPN.
