Waespe Nicolas, Strebel Sven, Jurkovic Mlakar Simona, Krajinovic Maja, Kuehni Claudia Elisabeth, Nava Tiago, Ansari Marc
CANSEARCH Research Platform in Pediatric Oncology and Hematology, University of Geneva, 1205 Geneva, Switzerland.
Institute of Social and Preventive Medicine, University of Bern, 3012 Bern, Switzerland.
J Pers Med. 2021 Apr 26;11(5):347. doi: 10.3390/jpm11050347.
Sinusoidal obstruction syndrome (SOS) is a potentially life-threatening complication after hematopoietic stem cell transplantation (HSCT) or antineoplastic treatment without HSCT. Genetic variants were investigated for their association with SOS, but the evidence is inconclusive. We performed a systematic literature review to identify genes, gene variants, and methods of association analyses of genetic markers with SOS. We identified 23 studies after HSCT and 4 studies after antineoplastic treatment without HSCT. One study (4%) performed whole-exome sequencing (WES) and replicated the analysis in an independent cohort, 26 used a candidate-gene approach. Three studies included >200 participants (11%), and six were of high quality (22%). Variants in 34 genes were tested in candidate gene studies after HSCT. Variants in were associated with SOS in three studies, in two, and , , , , , , and in one study each. and variants were identified in a WES analysis. After exposure to antineoplastic agents without HSCT, variants in six genes were tested and only was associated with SOS. There was a substantial heterogeneity of populations within and between studies. Future research should be based on sufficiently large homogenous samples, adjust for covariates, and replicate findings in independent cohorts.
窦性阻塞综合征（SOS）是造血干细胞移植（HSCT）后或未进行HSCT的抗肿瘤治疗后一种可能危及生命的并发症。对基因变异与SOS的关联进行了研究，但证据尚无定论。我们进行了一项系统的文献综述，以确定与SOS相关的基因、基因变异以及遗传标记的关联分析方法。我们确定了23项HSCT后的研究和4项未进行HSCT的抗肿瘤治疗后的研究。一项研究（4%）进行了全外显子测序（WES）并在独立队列中重复分析，26项采用候选基因方法。三项研究纳入了超过200名参与者（11%），六项质量较高（22%）。在HSCT后的候选基因研究中对34个基因的变异进行了检测。三项研究中 变异与SOS相关，两项研究中 变异与SOS相关，一项研究中 、 、 、 、 、 、 变异与SOS相关。在WES分析中鉴定出了 和 变异。在未进行HSCT而暴露于抗肿瘤药物后，对六个基因的变异进行了检测，只有 变异与SOS相关。研究内部和研究之间的人群存在很大的异质性。未来研究应基于足够大的同质样本，对协变量进行调整，并在独立队列中重复研究结果。
