Cesaro Simone, Pillon Marta, Sauer Martin, Smiers Frans, Faraci Maura, de Heredia Cristina Diaz, Wynn Robert, Greil Johann, Locatelli Franco, Veys Paul, Uyttebroeck Anne, Ljungman Per, Chevalier Patrice, Ansari Marc, Badell Isabel, Güngör Tayfun, Salim Rahuman, Tischer Johanna, Tecchio Cristina, Russell Nigel, Chybicka Alicja, Styczynski Jan, Krivan Gergely, Smith Owen, Stein Jerry, Afanasyev Boris, Pochon Cécile, Menconi Maria Cristina, Bosman Paul, Mauro Margherita, Tridello Gloria, de Latour Regis Peffault, Dufour Carlo
Paediatric Haematology Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Clinica di Oncoematologia Pediatrica, University of Padova, Padova, Italy.
Bone Marrow Transplant. 2020 Sep;55(9):1796-1809. doi: 10.1038/s41409-020-0863-z. Epub 2020 Mar 19.
Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative procedure in patients with Shwachman-Diamond syndrome (SDS) with bone marrow abnormalities. The results of 74 patients with SDS (6 acute myeloid leukemia, 7 myelodysplastic syndrome, and 61 bone marrow failure) treated with HSCT between 1988 and 2016 are reported. The donor source was: 24% sibling, 8% parent, and 68% unrelated donor. The stem cell source was: 70% bone marrow, 19% peripheral blood stem cells, and 11% cord blood. The conditioning regimen was myeloablative in 54% and reduced intensity in 46%. Neutrophil engraftment was achieved in 84% of patients after a median time of 17.5 days. Graft failure occurred in 15% of HSCTs. Grades I-IV acute and chronic GVHD were observed in 55% and 20% of patients, respectively. After a median follow-up of 7.3 years (95% CI 4.8-10.2), 28 patients died for progression/relapse (7) or toxicity (21). The 5-year overall survival and nonrelapse mortality were 63.3% (95% CI 50.8-73.4) and 19.8% (95% CI 10.8-30.8), respectively. In conclusion, this is the largest series so far reported and confirms that HSCT is a suitable option for patients with SDS. Further efforts are needed to lower transplant-related toxicity and reduce graft failure.
异基因造血干细胞移植（HSCT）是治疗患有骨髓异常的施万综合征（SDS）患者的一种治愈性方法。本文报告了1988年至2016年间接受HSCT治疗的74例SDS患者（6例急性髓系白血病、7例骨髓增生异常综合征和61例骨髓衰竭）的治疗结果。供体来源为：24%为同胞，8%为父母，68%为无关供体。干细胞来源为：70%为骨髓，19%为外周血干细胞，11%为脐带血。预处理方案中，54%为清髓性，46%为减低强度。84%的患者在中位时间17.5天后实现中性粒细胞植入。15%的HSCT发生移植物失败。分别有55%和20%的患者观察到I-IV级急性和慢性移植物抗宿主病（GVHD）。中位随访7.3年（95%CI 4.8-10.2）后，28例患者因病情进展/复发（7例）或毒性（21例）死亡。5年总生存率和无复发生存率分别为63.3%（95%CI 50.8-73.4）和19.8%（95%CI 10.8-30.8）。总之，这是迄今为止报道的最大系列病例，并证实HSCT是SDS患者的合适选择。需要进一步努力降低移植相关毒性并减少移植物失败。
