Zhou C, Luo C Y, Wang J M, Luo C J, Qin X, Huang X H, Chen J
Department of Hematology/Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Zhonghua Er Ke Za Zhi. 2023 Apr 2;61(4):351-356. doi: 10.3760/cma.j.cn112140-20220810-00720.
To evaluate the therapeutic efficacy of hematopoietic stem cell transplantation (HSCT) for Wiskott-Aldrich syndrome (WAS), and to analyze the factors related to the outcomes. The clinical data of 60 children with WAS received HSCT in Shanghai Children's Medical Center from January 2006 to December 2020 were retrospectively analyzed. All cases were treated with a myeloablative conditioning regimen with busulfan and cyclophosphamide, and a graft-versus-host disease (GVHD) prevention regimen based on cyclosporine and methotrexate. Implantation, GVHD, transplant-related complications, immune reconstitution and survival rate were observed. Survival analysis was performed by Kaplan-Meier method, and Log-Rank method was used for univariate comparison. The 60 male patients had main clinical features as infection and bleeding. The age at diagnosis was 0.4 (0.3, 0.8) years, and the age at transplantation was 1.1 (0.6, 2.1) years. There were 20 cases of human leukocyte antigen matched transplantation and 40 mismatched transplantation; 35 patients received peripheral blood HSCT, and 25 cord blood HSCT. All cases were fully implanted. The incidence of acute GVHD (aGVHD) was 48% (29/60) and only 2 (7%) developed aGVHD of grade Ⅲ; the incidence of chronic GVHD (cGVHD) was 23% (13/56), and all cases were limited. The incidence of CMV and EBV infection was 35% (21/60) and 33% (20/60) respectively; and 7 patients developed CMV retinitis. The incidence of sinus obstruction syndrome was 8% (5/60), of whom 2 patients died. There were 7 cases (12%) of autoimmune hemocytopenia after transplantation. Natural killer cells were the earliest to recover after transplantation, and B cells and CD4T cells returned to normal at about 180 days post HSCT. The 5-year overall survival rate (OS) of this group was 93% (95% 86%-99%), and the event free survial rate (EFS) was 87% (95% 78%-95%). EFS of non-CMV reactivation group is higher than that of CMV reactivation group (95% (37/39) .71% (15/21), =5.22, =0.022). The therapeutic efficacy of HSCT for WAS is satisfying, and the early application of HSCT in typical cases can achieve better outcome. CMV infection is the main factor affecting disease-free survival rate, which can be improved by strengthening the management of complications.
评估造血干细胞移植（HSCT）治疗威斯科特-奥尔德里奇综合征（WAS）的疗效，并分析与预后相关的因素。回顾性分析2006年1月至2020年12月在上海儿童医学中心接受HSCT的60例WAS患儿的临床资料。所有病例均采用白消安和环磷酰胺的清髓预处理方案，以及基于环孢素和甲氨蝶呤的移植物抗宿主病（GVHD）预防方案。观察植入情况、GVHD、移植相关并发症、免疫重建和生存率。采用Kaplan-Meier法进行生存分析，Log-Rank法用于单因素比较。60例男性患者的主要临床特征为感染和出血。诊断时年龄为0.4（0.3，0.8）岁，移植时年龄为1.1（0.6，2.1）岁。人类白细胞抗原匹配移植20例，不匹配移植40例；35例患者接受外周血HSCT，25例接受脐血HSCT。所有病例均完全植入。急性GVHD（aGVHD）发生率为48%（29/60），仅2例（7%）发生Ⅲ级aGVHD；慢性GVHD（cGVHD）发生率为23%（13/56），所有病例均为局限性。CMV和EBV感染发生率分别为35%（21/6）和33%（20/60）；7例患者发生CMV视网膜炎。鼻窦阻塞综合征发生率为8%（5/60），其中2例死亡。移植后有7例（12%）发生自身免疫性血细胞减少。移植后自然杀伤细胞最早恢复，B细胞和CD4T细胞在HSCT后约180天恢复正常。该组5年总生存率（OS）为93%（95% 86%-99%），无事件生存率（EFS）为87%（95% 78%-95%）。非CMV再激活组的EFS高于CMV再激活组（95%（37/39）.71%（15/21），=5.22，=0.022）。HSCT治疗WAS的疗效满意，典型病例早期应用HSCT可取得更好的预后。CMV感染是影响无病生存率的主要因素，加强并发症管理可提高生存率。
