慢性粒-单核细胞白血病患者SRSF2基因突变的研究  

SRSF2 mutation in patients with chronic myelomonocytic leukemia

作　　者：杨向绸[1] 张苏江[1] 乔纯[1] 郭睿[1] 仇红霞[1] 李建勇[1] 

机构地区：[1]南京医科大学第一附属医院血液科,210029

出　　处：《中华血液学杂志》2013年第12期1024-1027,共4页Chinese Journal of Hematology

基　　金：国家自然科学基金（81070456、81170490）

摘　　要：目的探讨精氨酸／丝氨酸丰富剪接因子2（SRSF2）基因在慢性粒一单核细胞白血病（CMML）患者中的突变情况及其临床意义。方法采用PCR结合测序方法检测20例CMML患者中SRSF2基因突变情况。结果20例CMML患者中4例（20％）伴有SRSF2基因突变，突变全部发生在P95位点，2例为P95L，1例为P95R，1例为P95H。突变组及野生组的临床指标差异均无统计学意义（P值均〉0．05）。结论SRSF2基因突变在CMML中的发生率不高，突变可能与疾病预后差有关，并可能成为CMML新的诊断标志和治疗靶点。Objective To investigate SRSF2 mutations in patients with chronic myelomonocytic leukemia （CMML） and the clinical characteristics of patients with SRSF2 mutants. Methods In 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. Results Of 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 be- tween mutant and wild type group. Conclusion SRSF2 mutation was not frequently occurred in CMML patients and might associated with poor prognosis. It might be a pratically diagnostic maker and therapeu- tic target in CMML.

关 键 词：基因 SRSF2 DNA突变分析 白血病 粒-单核细胞 慢性 

分 类 号：R733.7[医药卫生—肿瘤]