报道了几种癌症易感综合征（CPS）与横纹肌肉瘤有相关性，最常见于胚胎横纹肌肉瘤患儿。关于CPS在肺泡横纹肌肉瘤（ARMS）患者中的作用存在一些问题，这种疾病通常由FOXO1融合癌蛋白驱动。我们进行了系统回顾，以鉴定接受了生殖系DNA测序的FOXO1融合阳性ARMS（FP-ARMS）患者。我们估计了癌症易感基因（CPGs）中致病/可能致病（P/LP）变异和CPS的患病率。我们包括了19篇报道了191名FP-ARMS患者的文献。在191名患者中，有26名（13.6%）患者中发现了CPGs中的P/LP变异，其中有9名（4.9%）与CPS诊断有关。根据本次回顾的现有数据，无法评估CPS和FP-ARMS之间的因果联系。只有一名患者患有已知易感横纹肌肉瘤的CPS，即Li-Fraumeni综合征。FP-ARMS患者中与横纹肌肉瘤典型CPS的相关性很少见，但不是不存在的。仅凭FOXO1融合状态是不足以让临床医生区分患有和未患有CPS的患者的。 © 2023 Wiley Periodicals LLC.

Several cancer predisposition syndromes (CPS) are reported to predispose to rhabdomyosarcoma, most frequently in children with embryonal rhabdomyosarcoma. There are lingering questions over the role of CPS in individuals with alveolar rhabdomyosarcoma (ARMS), which are frequently driven by FOXO1 fusion oncoproteins. We conducted a systematic review to identify patients with FOXO1 fusion-positive ARMS (FP-ARMS) who underwent germline DNA sequencing. We estimated the prevalence of pathogenic/likely pathogenic (P/LP) variants in cancer predisposing genes (CPGs) and of CPSs. We included 19 publications reporting on 191 patients with FP-ARMS. P/LP variants in CPGs were identified in 26/191 (13.6%) patients, nine (4.9%) of which were associated with a CPS diagnosis. Evidence for causal associations between CPSs and FP-ARMS could not be assessed with available data from this review. Only one patient was affected with a CPS known to predispose to rhabdomyosarcoma, Li-Fraumeni syndrome. Typical CPS associations with rhabdomyosarcoma are rare, but not nonexistent, in patients with FP-ARMS. FOXO1 fusion status, alone, is insufficient for clinicians to rely on to distinguish between patients with/without CPS.© 2023 Wiley Periodicals LLC.