- VernacularTitle:慢性粒-单核细胞白血病患者SRSF2基因突变的研究
- Author:
Xiang-chou YANG
1
;
Su-jiang ZHANG
;
Chun QIAO
;
Rui GUO
;
Hong-xia QIU
;
Jian-Yong LI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; DNA Mutational Analysis; Female; Genotype; Humans; Leukemia, Myelomonocytic, Chronic; genetics; Male; Middle Aged; Mutation; Nuclear Proteins; genetics; Prognosis; Ribonucleoproteins; genetics; Serine-Arginine Splicing Factors
- From: Chinese Journal of Hematology 2013;34(12):1024-1027
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate SRSF2 mutations in patients with chronic myelomonocytic leukemia (CMML) and the clinical characteristics of patients with SRSF2 mutants.
METHODSIn this study, the frequency of SRSF2 mutation in a cohort of 20 patients with CMML was detected by polymerase chain reaction (PCR) followed by direct sequencing to couple with their clinical features.
RESULTSOf 20 patients, 4 patients were found harboring SRSF2 mutations, including 2 P95L, 1 P95H and 1 P95R point mutations. There were no significantly statistical differences in terms of their clinical characteristics between mutant and wild type group.
CONCLUSIONSRSF2 mutation was not frequently occurred in CMML patients and might associated with poor prognosis. It might be a practically diagnostic maker and therapeutic target in CMML.