Hematologic Malignancies and Bone Marrow Transplantation Program, Department of Oncology, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins and Johns Hopkins University School of Medicine, Baltimore, MD 21231-1000, USA.
Blood. 2012 Nov 22;120(22):4285-91. doi: 10.1182/blood-2012-07-438408. Epub 2012 Sep 6.
Allogeneic marrow transplantation can cure sickle cell disease; however, HLA-matched donors are difficult to find, and the toxicities of myeloablative conditioning are prohibitive for most adults with this disease. We developed a nonmyeloablative bone marrow transplantation platform using related, including HLA-haploidentical, donors for patients with sickle cell disease. The regimen consisted of antithymocyte globulin, fludarabine, cyclophosphamide, and total body irradiation, and graft-versus-host disease prophylaxis with posttransplantation high-dose cyclophosphamide, mycophenolate mofetil, and tacrolimus or sirolimus. After screening 19 patients, we transplanted 17, 14 from HLA-haploidentical and 3 from HLA-matched related donors. Eleven patients engrafted durably. With a median follow-up of 711 days (minimal follow up 224 days), 10 patients are asymptomatic, and 6 patients are off immunosupression. Only 1 patient developed skin-only acute graft-versus-host disease that resolved without any therapy; no mortality was seen. Nonmyeloablative conditioning with posttransplantation high-dose cyclophosphamide expands the donor pool, making marrow transplantation feasible for most patients with sickle cell disease, and is associated with a low risk of complications, even with haploidentical related donors. Graft failure, 43% in haploidentical pairs, remains a major obstacle but may be acceptable in a fraction of patients if the majority can be cured without serious toxicities.
同种异体骨髓移植可治愈镰状细胞病;然而,HLA 匹配的供体难以找到,而且大多数患有这种疾病的成年人都无法承受清髓性预处理的毒性。我们为镰状细胞病患者开发了一种非清髓性骨髓移植平台,使用相关的供体,包括 HLA 单倍体不全相合供体。该方案包括抗胸腺细胞球蛋白、氟达拉滨、环磷酰胺和全身照射,以及用移植后高剂量环磷酰胺、霉酚酸酯和他克莫司或西罗莫司进行移植物抗宿主病预防。在筛选了 19 名患者后,我们移植了 17 名患者,其中 14 名来自 HLA 单倍体不全相合供体,3 名来自 HLA 匹配的相关供体。11 名患者持久植入。中位随访 711 天(最小随访 224 天),10 名患者无症状,6 名患者停用免疫抑制剂。只有 1 名患者发生仅有皮肤的急性移植物抗宿主病,未经任何治疗即缓解;未观察到死亡率。移植后高剂量环磷酰胺的非清髓性预处理扩大了供体库,使骨髓移植对大多数镰状细胞病患者变得可行,且并发症风险低,即使是与单倍体不全相合相关供体。植入失败(在单倍体不全相合对中占 43%)仍然是一个主要障碍,但如果大多数患者可以在没有严重毒性的情况下治愈,那么对于一部分患者来说,这可能是可以接受的。