BACKGROUND Embryonal tumors are highly malignant cancers of the central nervous system, with a relatively high incidence in infants and young children. Even with intensive multimodal treatment, the prognosis of many types is guarded, and treatment-related toxicity is significant. Recent advances in molecular diagnostics allowed the discovery of novel entities and inter-tumor subgroups, with opportunities for improved risk-stratification and treatment approaches. SUMMARY Medulloblastomas separate into four distinct subgroups with distinct clinicopathologic characteristics, and data from recent clinical trials for newly diagnosed medulloblastoma support subgroup-specific treatment approaches. Atypical teratoid rhabdoid tumor (ATRT), embryonal tumor with multilayered rosettes (ETMR), and pineoblastoma, as well as other rare embryonal tumors, can be distinguished from histologically similar tumors by virtue of characteristic molecular findings, with DNA methylation analysis providing a strong adjunct in indeterminate cases. Methylation analysis can also allow further subgrouping of ATRT and pineoblastoma. Despite the dire need to improve outcomes for patients with these tumors, their rarity and lack of actionable targets lead to a paucity of clinical trials and novel therapeutics. KEY MESSAGES (1) Embryonal tumors can be accurately diagnosed with pediatric-specific sequencing techniques. (2) Medulloblastoma risk stratification and treatment decisions should take into account molecular subgroups. (3) There is a dire need for a novel collaborative clinical trial design to improve outcomes is rare pediatric embryonal tumors.

中文翻译：

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当前儿科胚胎肿瘤的开放试验和分子更新。

背景技术胚胎肿瘤是中枢神经系统的高度恶性癌症，在婴幼儿中发病率较高。即使采用强化的多模式治疗，许多类型的预后仍受到威胁，并且与治疗相关的毒性也很显着。分子诊断学的最新进展使得新实体和肿瘤亚组的发现成为可能，并为改进风险分层和治疗方法提供了机会。摘要 髓母细胞瘤分为四个不同的亚组，具有不同的临床病理特征，最近新诊断的髓母细胞瘤的临床试验数据支持亚组特异性治疗方法。非典型畸胎瘤样横纹肌样瘤（ATRT）、多层玫瑰花结胚胎肿瘤（ETMR）和松果体母细胞瘤以及其他罕见胚胎肿瘤，可以凭借特征性分子发现与组织学相似的肿瘤区分开来，DNA甲基化分析提供了强有力的辅助手段在不确定的情况下。甲基化分析还可以对 ATRT 和松果体母细胞瘤进行进一步的亚组。尽管迫切需要改善这些肿瘤患者的治疗结果，但它们的稀有性和缺乏可操作的靶点导致临床试验和新疗法的缺乏。关键信息 (1) 胚胎肿瘤可以通过儿科特异性测序技术准确诊断。(2) 髓母细胞瘤风险分层和治疗决策应考虑分子亚组。(3) 迫切需要一种新颖的协作临床试验设计来改善罕见儿科胚胎肿瘤的结果。