Stivaros S M, Parkes L M, Bedir R, Cheesman E, Ram D, Leung L, Huang A, Kilday J P
The Geoffrey Jefferson Brain Research Centre, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Childs Nerv Syst. 2025 Jan 22;41(1):93. doi: 10.1007/s00381-024-06698-w.
Atypical teratoid/rhabdoid tumours (ATRTs) are malignant central nervous system tumours, typically presenting in the posterior fossa of very young children. Prognosis remains poor despite current therapy, while tumorigenesis implicates both genomic and epigenetic dysregulation. Primary diffuse leptomeningeal (PDL) ATRT, characterised by the absence of an intraparenchymal mass lesion, is seldom reported but appears associated with a dismal outcome.
We describe a 7-year-old male presenting with a PDL MYC-subgroup ATRT. The patient received multimodal upfront therapy, including high-dose craniospinal radiotherapy, embedded within a chemotherapy backbone. An unexpected clinical and radiological improvement was also observed upon cessation of all therapy for presumed disease progression. Although the patient eventually succumbed to the disease at 30 months, he demonstrated the longest survival for any PDL ATRT patient reported (median 8 months).
Exhaustive literature review identified seven preceding published cases of PDL ATRT. Ours is the only one to have molecular subgrouping assigned. Perfusion imaging, within a multi-parametric diagnostic package, may be a sensitive marker for malignancy against other aetiologies in challenging presentations. Acknowledging the scarcity of the entity, we cautiously suggest a combination of chemotherapy and upfront high-dose craniospinal radiotherapy, if appropriate, may prolong survival for older children with PDL ATRT compared to exclusive chemotherapy or focal irradiation-based strategies. Our patient's recovery during palliation following a radiological diagnosis of disseminated relapse highlights the importance of confirming disease recurrence by tissue extraction where feasible.
非典型畸胎样/横纹肌样肿瘤（ATRT）是恶性中枢神经系统肿瘤，通常发生于幼儿的后颅窝。尽管目前有治疗方法，但预后仍然很差，而肿瘤发生涉及基因组和表观遗传失调。原发性弥漫性软脑膜（PDL）ATRT的特征是实质内无肿块病变，很少有报道，但似乎预后不良。
我们描述了一名7岁男性，患有PDL MYC亚组ATRT。患者接受了多模式前期治疗，包括高剂量的全脑全脊髓放疗，并结合化疗方案。在因假定的疾病进展停止所有治疗后，还观察到了意外的临床和影像学改善。尽管患者最终在30个月时死于该疾病，但他的生存期是所有报道的PDL ATRT患者中最长的（中位生存期8个月）。
详尽的文献综述确定了之前发表的7例PDL ATRT病例。我们的病例是唯一进行了分子亚组分类的。在多参数诊断方案中，灌注成像可能是在具有挑战性的表现中鉴别恶性肿瘤与其他病因的敏感标志物。鉴于该疾病的稀缺性，我们谨慎地建议，如果合适，与单纯化疗或基于局部放疗的策略相比，化疗和前期高剂量全脑全脊髓放疗相结合可能会延长年龄较大的PDL ATRT患儿的生存期。我们的患者在放射学诊断为播散性复发后的姑息治疗期间恢复，这突出了在可行的情况下通过组织提取确认疾病复发的重要性。
