Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, 11 Xizhimen South Street, Beijing, 100044, People's Republic of China.
Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation for the Treatment of Hematological Diseases, Beijing, People's Republic of China.
BMC Infect Dis. 2022 Mar 26;22(1):292. doi: 10.1186/s12879-022-07298-2.
Invasive fungal disease (IFD) is a severe complication after haploidentical stem cell transplantation (haplo-HSCT) and has a poor prognosis. It has been shown that genetic polymorphism may be one possible reason for the increased risk of IFD. This study aimed to assess the role of genetic polymorphism in the level of susceptibility to IFD after haplo-HSCT.
In this study, we prospectively enrolled 251 patients who received haplo-HSCT at the Peking University Institute of Hematology from 2016 to 2018. Forty-three single nucleotide polymorphisms (SNPs) of the genomic DNA were genotyped in blood samples from both recipient and donor.
Twenty-two patients (8.8%) were diagnosed with proven or probable IFD. The independent risk factors for IFD were grades 3-4 acute graft-versus-host disease, cytomegalovirus reactivation, and recipient and donor rs2305619 (PTX3) (P < 0.05) in multivariate analysis. Meanwhile, we combined the variables to develop the IFD risk scoring system and stratified patients into low- (0-2) and high-risk (3-4) groups. The 30-day and 100-day cumulative incidence of IFD in the low- and high-risk groups were 2.1% and 10.2%, 4.2% and 20.3%, respectively (P = 0.015).
PTX3 rs2305619 polymorphism increase the susceptibility of IFD after haplo-HSCT in the Chinese Han population, and the IFD scoring system could be useful in risk stratification for IFD after HSCT.
侵袭性真菌病（IFD）是异基因造血干细胞移植（haplo-HSCT）后的严重并发症，预后不良。已经表明，遗传多态性可能是 IFD 风险增加的一个可能原因。本研究旨在评估遗传多态性在haplo-HSCT 后 IFD 易感性中的作用。
本研究前瞻性纳入 2016 年至 2018 年在北京大学血液病研究所接受 haplo-HSCT 的 251 例患者。在受者和供者的血液样本中对 43 个基因组 DNA 单核苷酸多态性（SNP）进行基因分型。
22 例（8.8%）患者确诊或疑似 IFD。多因素分析显示，IFD 的独立危险因素为 3-4 级急性移植物抗宿主病、巨细胞病毒再激活以及受者和供者 rs2305619（PTX3）（P<0.05）。同时，我们将变量结合起来开发 IFD 风险评分系统，并将患者分为低危（0-2 分）和高危（3-4 分）组。低危和高危组的 30 天和 100 天 IFD 累积发生率分别为 2.1%和 10.2%、4.2%和 20.3%（P=0.015）。
PTX3 rs2305619 多态性增加了汉族人群 haplo-HSCT 后 IFD 的易感性，IFD 评分系统可用于 HSCT 后 IFD 的风险分层。
