横纹肌样瘤易感综合征 (RTPS) 患者的表观遗传调节基因 SMARCB1 或 SMARCA4 存在种系改变。患者通常患有脑部非典型畸胎瘤样/横纹肌样瘤（AT/RT）或中枢神经系统外产生的恶性横纹肌样瘤（MRT）。强化治疗可以导致缓解，但肿瘤经常复发或出现同步或异时肿瘤。维持或二级预防方案可以预防这些侵袭性肿瘤。潜在的维持方案可能包括低剂量传统化疗或旨在针对驱动 RT 的表观遗传失衡的不同表观遗传疗法。我们在此回顾了几种可能对 RTPS 有用的潜在维持方案。© 作者 2024。由牛津大学出版社、神经肿瘤学会和欧洲神经肿瘤学会出版。

Patients with rhabdoid tumor predisposition syndrome (RTPS) harbor germline alterations in the epigenetic regulator genes SMARCB1 or SMARCA4. Patients usually present with atypical teratoid/rhabdoid tumor (AT/RT) of the brain or malignant rhabdoid tumor (MRT) arising outside the central nervous system. Intensive treatment can lead to remissions, however tumors frequently recur or synchronous or metachronous tumors appear. A maintenance or secondary prevention regimen may prevent these aggressive tumors. Potential maintenance regimens may include low-dose traditional chemotherapy or different epigenetic therapies designed to target the epigenetic imbalance that drives RTs. We here review several potential maintenance regimens that may be useful in RTPS.© The Author(s) 2024. Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology.