Cheng Sylvia, Cacciotti Chantel, Yan Carol L S, Lafay-Cousin Lucie
British Columbia Women and Children's Hospital, Vancouver, BC V6H 3N1, Canada.
London Health Center, London, ON N6A 5W9, Canada.
Cancers (Basel). 2025 Mar 26;17(7):1116. doi: 10.3390/cancers17071116.
Atypical teratoid rhabdoid tumors are rare embryonal tumors of the nervous system mainly seen in very young children with aggressive behavior and dismal prognosis when treated with conventional chemotherapy only. More recent multimodal strategies combining, variably, high dose chemotherapy, radiotherapy and or intrathecal chemotherapy have led to some stride in survival. We present the results of the most recent clinical trials and registry data for patients treated with these multimodal approaches with survival ranging from 37.1% to 88.9%. We review the current consensus of the molecular characterization of these tumors into 3 subgroups (ATRT-TYR, ATRT-SHH and ATRT-MYC) and discuss the potential clinical impact of molecular subgrouping on survival. We explore other therapeutic tools including intrathecal chemotherapy and maintenance and possible new targeted agents for patients failing multimodal strategies.
非典型畸胎样横纹肌样肿瘤是一种罕见的神经系统胚胎性肿瘤，主要见于幼儿，仅采用传统化疗时行为侵袭性强且预后不佳。最近，多种高剂量化疗、放疗和（或）鞘内化疗相结合的多模式治疗策略已使生存率取得了一些进展。我们展示了采用这些多模式治疗方法的患者的最新临床试验结果和登记数据，其生存率在37.1%至88.9%之间。我们回顾了目前将这些肿瘤分子特征分为3个亚组（ATRT-TYR、ATRT-SHH和ATRT-MYC）的共识，并讨论了分子亚组分类对生存的潜在临床影响。我们探索了其他治疗手段，包括鞘内化疗和维持治疗，以及针对多模式治疗策略失败患者的可能新型靶向药物。
