University Medical Center Utrecht, Pediatric Blood and Marrow Transplantation Program, Utrecht, The Netherlands.
Blood. 2013 May 9;121(19):3981-7. doi: 10.1182/blood-2012-09-455238. Epub 2013 Mar 14.
We report transplantation outcomes of 258 children with Hurler syndrome (HS) after a myeloablative conditioning regimen from 1995 to 2007. Median age at transplant was 16.7 months and median follow-up was 57 months. The cumulative incidence of neutrophil recovery at day 60 was 91%, acute graft-versus-host disease (GVHD) (grade II-IV) at day 100 was 25%, and chronic GVHD and 5 years was 16%. Overall survival and event-free survival (EFS) at 5 years were 74% and 63%, respectively. EFS after HLA-matched sibling donor (MSD) and 6/6 matched unrelated cord blood (CB) donor were similar at 81%, 66% after 10/10 HLA-matched unrelated donor (UD), and 68% after 5/6 matched CB donor. EFS was lower after transplantation in 4/6 matched unrelated CB (UCB) (57%; P = .031) and HLA-mismatched UD (41%; P = .007). Full-donor chimerism (P = .039) and normal enzyme levels (P = .007) were higher after CB transplantation (92% and 98%, respectively) compared with the other grafts sources (69% and 59%, respectively). In conclusion, results of allogeneic transplantation for HS are encouraging, with similar EFS rates after MSD, 6/6 matched UCB, 5/6 UCB, and 10/10 matched UD. The use of mismatched UD and 4/6 matched UCB was associated with lower EFS.
我们报告了 1995 年至 2007 年间，258 例黏多糖贮积症（Hurler 综合征，HS）患儿接受清髓性预处理方案后的移植结果。移植时的中位年龄为 16.7 个月，中位随访时间为 57 个月。第 60 天中性粒细胞恢复的累积发生率为 91%，第 100 天急性移植物抗宿主病（GVHD）（Ⅱ-Ⅳ级）发生率为 25%，慢性 GVHD 及 5 年发生率为 16%。5 年总生存率和无事件生存率（EFS）分别为 74%和 63%。HLA 匹配同胞供体（MSD）和 6/6 相合无关脐带血（CB）供体的 EFS 相似，为 81%，10/10 HLA 匹配无关供体（UD）为 66%，5/6 相合 CB 供体为 68%。4/6 相合 CB（UCB）（57%；P =.031）和 HLA 不合 UD（41%；P =.007）移植后 EFS 较低。与其他移植物来源（分别为 69%和 59%）相比，完全供者嵌合体（P =.039）和正常酶水平（P =.007）在 CB 移植后更高（分别为 92%和 98%）。总之，HS 患者的异基因移植结果令人鼓舞，MSD、6/6 相合 UCB、5/6 UCB 和 10/10 相合 UD 的 EFS 率相似。使用不合 HLA 的 UD 和 4/6 相合 UCB 与较低的 EFS 相关。
