The First Clinical Medical College of Beijing University of Traditional Chinese Medicine.
Dongzhimen Hospital, Beijing University of Chinese Medicine, Beijing.
Anticancer Drugs. 2024 Jul 1;35(6):548-555. doi: 10.1097/CAD.0000000000001594. Epub 2024 Mar 14.
Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disease, which is prone to transform into myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). TP53 mutation is a driving factor involved in the transformation of SDS into MDS/AML, and in the evolution of MDS to AML. Allogeneic hematopoietic stem cell transplantation (Allo-HSCT) is the only curable approach, however, challenge remains regarding the balance between efficacy and the high risk from treatment-related toxicity and mortality to achieve temporary disease control before transplantation to gain time and opportunities for transplantation. At present, pre-transplant bridging therapy has emerged as one of the important options with improved efficacy, reduced tumor burden, and less treatment-related toxicity. Here we reported azacitidine combined with venetoclax was used as pre-transplant bridging regimen in a TP53-mutant AML-MR case developed from SDS. He achieved complete remission with incomplete recovery and proceeded to Allo-HSCT. We hope to provide some evidence and insight for in-depth research and clinical treatment by presenting this case.
Shwachman-Diamond 综合征（SDS）是一种常染色体隐性遗传疾病，易向骨髓增生异常综合征（MDS）和急性髓系白血病（AML）转化。TP53 突变是 SDS 向 MDS/AML 转化以及 MDS 向 AML 演变的驱动因素。异基因造血干细胞移植（Allo-HSCT）是唯一可治愈的方法，然而，在移植前实现暂时疾病控制以获得时间和移植机会的同时，如何在疗效和治疗相关毒性和死亡率的高风险之间取得平衡仍然是一个挑战。目前，移植前桥接治疗已成为提高疗效、减轻肿瘤负担和减少治疗相关毒性的重要选择之一。本文报道了一例 SDS 相关的 TP53 突变 AML-MR 患者，采用阿扎胞苷联合 venetoclax 作为移植前桥接方案，患者获得不完全缓解的完全缓解，并进行了 Allo-HSCT。我们希望通过报道该病例，为深入研究和临床治疗提供一些依据和思路。
