Mutational analysis of RNA splicing machinery genes SF3B1, U2AF1 and SRSF2 in 118 patients with myelodysplastic syndromes and related diseases
10.3760/cma.j.issn.0253-2727.2017.03.004
- VernacularTitle: 118例骨髓增生异常综合征及相关疾病患者RNA剪接体复合物蛋白编码基因SF3B1、U2AF1和SRSF2突变分析
- Author:
Jiying WANG
1
;
Jiao MA
;
Yani LIN
;
Jun WANG
;
Hui SHEN
;
Fumin GUI
;
Cong HAN
;
Qinghua LI
;
Zhen SONG
;
Xiaojing WANG
Author Information
1. Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences, Tianjin 300020, China
- Publication Type:Journal Article
- Keywords:
Myelodysplastic syndromes;
DNA mutational analysis;
Gene, SF3B1;
Gene, U2AF1;
Gene, SRSF2
- From:
Chinese Journal of Hematology
2017;38(3):192-197
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the incidence, molecular features and clinical significance of RNA splicing machinery genes mutation in myelodysplastic syndromes (MDS) and related diseases.
Methods:Mutational analysis of splicing factor 3B subunit 1 (SF3B1) (K700E) , U2 small nuclear RNA auxiliary factor 1 (U2AF1) (S34, Q157P) and serine/arginine-rich splicing factor 2 (SRSF2) (P95) in 118, de novo MDS and related diseases were separately performed by using polymerase chain reaction (PCR) followed by sequence analysis.
Results:Of 118 MDS patients, 76 males and 42 females, the median age was 53.5 (13-84) years old. 19.49% (23/118) had SF3B1 (K700E) mutation. As compared with those with wild type SF3B1, patients with SF3B1 K700E were of older[58 (32-78) years vs 51 (13-84) years, z=-1.981, P=0.048], lower HGB level[63 (40-95) g/L vs 77 (34-144) g/L, z=-3.192, P=0.001], higher platelet counts[121 (22-888) ×109/L vs 59 (6-1 561) ×109/L, z=-3.305, P=0.001], lower bone marrow blast cell counts[0.007 (0-0.122) vs 0.017 (0-0.268) , z=-2.885, P=0.004], higher ring sideroblasts percent [0 (0-64%) vs 0 (0-58%) , z=-4.664, P<0.001]. Of 105 MDS patients, 21.9% had U2AF1 (S34, Q157P) mutations. Of 107 MDS patients, 8 patients (7.48%) had SRSF2 (P95) mutations. Patients with SRSF2 mutations were older at diagnosis, the median age was 63 (50-84) years old, including 4 cases RAEB-1. The ratio of mutation was 14.29% (4/28) , and three patients transformed to AML. SF3B1 K700E and SRSF2 P95H mutations coexisted in 1 patient, and SF3B1 K700E and U2AF1 S34Y mutations were found concomitantly in 2 patients.
Conclusion:Only SF3B1 gene mutation was closely related to ring sideroblasts, it was the key to pathogenesis of MDS.
