Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
J Pediatr Hematol Oncol. 2021 Apr 1;43(3):e414-e418. doi: 10.1097/MPH.0000000000001773.
Outcomes of patients with Shwachman-Diamond syndrome (SDS) who developed myeloid malignancies are poor because of refractory disease and high hematopoietic stem cell transplantation-related mortality. We herein report a case of a 7-year-old girl with SDS who developed acute myeloid leukemia with monosomy 7. She was successfully treated with chemotherapy followed by unrelated cord blood transplantation with reduced-intensity conditioning consisting of fludarabine, melphalan, and high-dose cytarabine without significant toxicity. Reduced-intensity conditioning presented in this report might be a preferable option for SDS patients with acute myeloid leukemia, although further evaluation in a larger number of similar cases is necessary.
患有 Shwachman-Diamond 综合征 (SDS) 的患者发生髓系恶性肿瘤的结局较差，这是由于疾病难治和造血干细胞移植相关死亡率高所致。我们在此报告一例 7 岁女孩，患有 SDS 并发生伴单体 7 的急性髓系白血病。她成功地接受了化疗，随后接受了非相关脐带血移植，预处理方案为氟达拉滨、马法兰和大剂量阿糖胞苷的减低强度方案，没有明显的毒性。本报告中的减低强度预处理可能是急性髓系白血病 SDS 患者的一个较好选择，尽管还需要在更多类似病例中进行进一步评估。
