Progress of SF3B1 gene mutation and hematological malignancies
10.3760/cma.j.issn.1673-4408.2014.04.005
- VernacularTitle:SF3 B1基因突变与恶性血液病的相关研究进展
- Author:
Jianyong WANG
;
Xiuhong JIA
- Publication Type:Journal Article
- Keywords:
SF3B1 gene;
Mutation;
Hematological malignancies
- From:
International Journal of Pediatrics
2014;(4):354-356,357
- CountryChina
- Language:Chinese
-
Abstract:
The SF3B1 gene encodes subunit 1 of the splicing factor 3b,which is a core component of the U2 small nuclear ribonucleoprotein and plays an important role in the process of RNA splicing. Abnormal splicing caused by SF3B1 mutations are associated with hematological malignancies,particularly with myelodys-plastic syndrome,refractory anemia with ring sideroblasts associated with marked thrombocytosis and chronic lymphocytic leukemia( CLL) . In myelodysplastic syndrome and refractory anemia with ring sideroblasts associat-ed with marked thrombocytosis,SF3B1 mutations are bond up with favorable prognosis and strongly with ring sideroblasts. But in CLL,SF3B1 mutations are factors of poor prognosis.
