异基因造血干细胞移植（HSCT）是治疗范可尼贫血（FA）相关骨髓衰竭（BMF）/再生障碍性贫血（AA）和血液恶性肿瘤的唯一既定治疗选择。我们对 2010 年至 2018 年间接受首次 HSCT 的 813 名 FA 儿童进行了一项回顾性多中心研究。中位随访时间为 3.7 年（四分位距，3.4-4.0）。移植时的中位年龄为 8.8 岁 (6.5-18.1)。 5 年总生存率 (OS)、无事件生存率 (EFS) 和无 GvHD、无复发生存率 (GRFS) 分别为 83% (80-86%)、78% (75-81%) 和 70%（ 67-74%）分别。匹配的家庭供体 (MFD, n=441, 88%) 和匹配的无关供体 (MUD, n=162, 86%) 之间的 OS 相当，并且优于不匹配的家庭或无关供体 (MMFD/MMUD, n=144) , 72%) 和半相合供体 (HID) (n=66, 70%, p<0.001)。在多变量分析中，与 AA/BMF 相比，急性髓系白血病/骨髓增生异常综合征的移植指征、与 MFD 相比，使用 MMFD/MMUD 和 HID、与 FluCy 相比，氟达拉滨-环磷酰胺 (FluCy) 其他条件治疗独立预测较差的 OS，而阿仑单抗则与 FluCy 相比独立预测较差的 OS。 ATG 与更好的操作系统相关。年龄≥10岁与较差的EFS和GRFS相关。原发性和继发性移植失败的累积发生率 (CIN) 分别为 2% (1-3%) 和 3% (2-4%)。 II-IV级急性GvHD、III-IV级急性GvHD和慢性GvHD的CIN分别为23%（20-26%）、12%（10-15%）和8%（6-10%）。继发性恶性肿瘤的 5 年 CIN 为 2%（1-3%）。这些数据表明，应在匹配良好的供体存在的情况下，为患有 AA/BMF 的范可尼贫血患者提供 HSCT。版权所有 © 2024 美国血液学会。

Allogeneic hematopoietic stem cell transplantation (HSCT) is the only established curative option for Fanconi anemia (FA) associated bone marrow failure (BMF)/aplastic anemia (AA) and hematological malignancy. We performed a retrospective multicenter study on 813 FA children undergoing first HSCT between 2010 and 2018. Median duration of follow-up was 3.7 years (interquartile range, 3.4-4.0). Median age at transplant was 8.8 years (6.5-18.1). Overall survival (OS), event-free survival (EFS) and GvHD-free, relapse-free survival (GRFS) at 5 years were 83% (80-86%), 78% (75-81%) and 70% (67-74%) respectively. OS was comparable between matched family donor (MFD, n=441, 88%) and matched unrelated donor (MUD, n=162, 86%) and was superior to that of mismatched family or unrelated donor (MMFD/MMUD, n=144, 72%) and haploidentical donor (HID) (n=66, 70%, p<0.001). In multivariable analysis, a transplant indication of acute myeloid leukaemia/myelodysplastic syndrome compared to AA/BMF, use of MMFD/MMUD and HID compared to MFD, Fludarabine-Cyclophosphamide (FluCy) + other conditioning compared to FluCy independently predicted inferior OS, while alemtuzumab compared to ATG was associated with better OS. Age  10 years was associated with worse EFS and GRFS. Cumulative incidences (CIN) of primary and secondary graft failure were 2% (1-3%) and 3% (2-4%) respectively. CIN of grade II-IV acute GvHD, grade III-IV acute GvHD and chronic GvHD were 23% (20-26%), 12% (10-15%) and 8% (6-10%) respectively. The 5-year CIN of secondary malignancy was 2% (1-3%). These data suggest that HSCT should be offered to Fanconi Anemia patients with AA/BMF at a younger age in the presence of a well-matched donor.Copyright © 2024 American Society of Hematology.