STAT3基因突变阳性大颗粒淋巴细胞白血病相关纯红细胞再生障碍临床特征及结局研究  

Clinical features and oucomes of patients with pure red cell aplasia(PRCA)associated with large granular lymphocytic leukemia(LGLL)with STAT3 gene mutation

作　　者：王纬 刘晓庆 陈小玉 张婷 宫跃敏 叶宝东[4] 吴雪梅[5] 孙京男[6] 陈曦 宋玉华 龙启强[1] WANG Wei;LIU Xiao-xing;CHENG Xiao-yu;ZHANG Ting;GONG Yue-min;YE Bao-dong;WU Xue-mei;SUN Jing-nan;CHENG Xi;SONG Yu-hua;LONG Qiqiang(Department of Hematology,the Second Hospital of Nanjing,Nanjing University of Chinese Medicine,Nanjing 210037,China;不详)

机构地区：[1]南京市第二医院南京中医药大学附属南京医院血液科,江苏南京210037 [2]南京医科大学第一附属医院江苏省人民医院血液科,江苏南京210029 [3]南京医科大学附属江宁医院血液内科,江苏南京211199 [4]浙江省中医院血液科,浙江杭州310003 [5]苏州大学第二附属医院血液科,江苏苏州215004 [6]吉林大学第一医院血液肿瘤中心,吉林长春130061

出　　处：《中国实用内科杂志》2024年第4期321-325,共5页Chinese Journal of Practical Internal Medicine

基　　金：国家自然科学基金(81900109);南京医科大学附属江宁医院免疫细胞转化研究中心开放课题(JNYYZXKY202214)。

摘　　要：目的探索STAT3基因突变阳性大颗粒淋巴细胞白血病(LGLL)相关纯红细胞再生障碍(PRCA)临床特征和结局。方法纳入2018年1月至2023年7月81例LGLL相关PRCA患者临床资料(登记于中国贫血东部协作组)进行分析。对LGLL相关PRCA患者进行STAT3基因突变筛选,分析STAT3基因突变阳性患者的临床特征、免疫抑制治疗反应及预后生存。结果21例STAT3突变阳性的LGLL相关PRCA患者,15例(71%)exon 21突变阳性,4例(19%)exon 20突变阳性,1例exon 20和21双突变阳性,1例exon13突变阳性。Y640F为高频突变位点(42.9%)。STAT3突变患者接受环孢素(CsA)治疗的完全反应率(CRR)和总反应率(ORR)分别为31.3%和56.3%,环磷酰胺联合泼尼松(CP)方案在STAT3突变组中的CRR及ORR均高于CsA(53.8%比31.3%,P=0.274;84.6%比56.3%,P=0.130);且复发率更低(77.8%比18.2%,P=0.022)。结论STAT3基因高频突变位于exon 21,最常见位点为Y640F,CP方案疗效较CsA好,复发率低。Objective To explore clinical features and oucomes of patients with pure red cell aplasia(PRCA)associated large granular lymphocytic leukemia(LGLL)with STAT3 gene mutation.Methods 81 patients with LGLL-related PRCA from January 2018 to July 2023(registered in CECGA)were analyzed.STAT3 gene mutation screening was performed in patients with LGLL-associated PRCA,and the clinical features,outcomes of immunosuppresive therapy were analyzed.Results In this study,21 patients were diagnosed with PRCA associated with LGLL with STAT3 gene mutation,15patients(71%)had a exon21 gene mutation,4 patients(19%)had a exon 20 gene mutation,1 patient had exon 20 and 21gene mutations,1 patient had a exon13 gene mutation.Y640F was high frequency of mutations site(42.9%).In patients treated by cyclosporin(CsA),complete remission rate(CRR)and overall response rate(ORR)were31.3%and 56.3%,respectively.Patients who received cyclophosphamide and prednison(CP)treatment have higher CRR,ORR(53.8%vs.31.3%,P=0.274,84.6%vs.56.3%,P=0.130),and lower recurrence rate(77.8%vs.18.2%,P=0.022).Conclusion Exon 21 of STAT3 gene is a high frequency of mutations and Y640F is the most common mutation site in LGLL-PRCA patients with STAT3 mutations.Compared to CsA,patients treated by CP regimen achieve better efficacy and lower recurrence rate.

关 键 词：STAT3基因突变 大颗粒淋巴细胞白血病 纯红细胞再生障碍 环孢素 环磷酰胺 疗效 

分 类 号：R552[医药卫生—血液循环系统疾病]