CAJ | 학술논문

目的探讨精氨酸/丝氨酸丰富剪接因子2(SRSF2)基因在慢性粒-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,l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.
목적 탐토정안산/사안산봉부전접인자2(SRSF2)기인재만성립-단핵세포백혈병(CMML)환자중적돌변정황급기림상의의.방법 채용PCR결합측서방법검측20례CMML환자중SRSF2기인돌변정황.결과 20례CMML환자중4례(20％)반유SRSF2기인돌변,돌변전부발생재P95위점,2례위P95L,1례위P95R,l례위P95H.돌변조급야생조적림상지표차이균무통계학의의(P치균＞ 0.05).결론 SRSF2기인돌변재CMML중적발생솔불고,돌변가능여질병예후차유관,병가능성위CMML신적진단표지화치료파점.
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 between 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 therapeutic target in CMML.