Embryonal tumor with multilayered rosettes (ETMR) is one of the childhood central nervous system tumors with the poorest prognosis; thus, establishing an optimal treatment strategy is essential, However, because of the low incidence and molecular heterogeneity of the tumor, the optimal treatment has not yet been determined. In this study the authors evaluated the prognostic impact of a multimodal treatment approach in patients with ETMR.

The authors evaluated 4 patients with ETMR at their institution who showed varied clinical features and also conducted clinical characterization and prognostic analysis of previously reported cases of the ETMR-presenting locus 19q13.42 with a chromosome 19 microRNA cluster (C19MC) amplification, which is known to be a diagnostic hallmark of the tumor.

Of the 4 patients with ETMR in the authors’ institution, in 1 case the patient’s tumor showed a neuroblastoma-like appearance without multilayered rosettes; however, the diagnosis was confirmed by the presence of amplified C19MC. From a clinical standpoint, 2 patients who underwent gross-total resection (GTR) of the tumor and chemotherapy followed by high-dose chemotherapy (HDC) had long-term complete remission with or without local irradiation. In the multivariate analysis of 43 cases with C19MC-altered ETMR reported in the literature, HDC and local irradiation were significantly correlated with better event-free survival (HR 0.17, p = 0.0087; HR 0.17, p = 0.010) and overall survival (OS) (HR 0.29, p = 0.023; HR 0.28, p = 0.019), respectively. GTR was also correlated with better OS (HR 0.40, p = 0.039).

This case series demonstrated pathological and clinical heterogeneity among ETMR cases and the diagnostic importance of the molecular genetic approach among embryonal tumors, particularly during infancy. Based on the results of the analysis of molecularly uniformed ETMR cases, multimodal treatment may play a significant role in the prognosis of these tumors.

具有多层玫瑰花结的胚胎肿瘤（ETMR）是预后最差的儿童中枢神经系统肿瘤之一；因此，建立最佳治疗策略至关重要，但由于肿瘤发病率低且分子异质性强，目前尚未确定最佳治疗方案。在这项研究中，作者评估了多模式治疗方法对 ETMR 患者的预后影响。

作者在他们的机构评估了 4 名 ETMR 患者，这些患者表现出不同的临床特征，并对先前报道的 ETMR 呈递基因座 19q13.42 的病例进行了临床特征和预后分析，这些病例具有已知的 19 号染色体 microRNA 簇 (C19MC) 扩增成为肿瘤的诊断标志。

在作者机构的 4 例 ETMR 患者中，1 例患者的肿瘤呈神经母细胞瘤样外观，没有多层玫瑰花结；然而，诊断被扩增的 C19MC 的存在所证实。从临床角度来看，2 名接受肿瘤大体切除 (GTR) 和化疗后大剂量化疗 (HDC) 的患者在有或没有局部照射的情况下长期完全缓解。在文献报道的 43 例 C19MC 改变的 ETMR 病例的多变量分析中，HDC 和局部照射与更好的无事件生存期（HR 0.17，p = 0.0087；HR 0.17，p = 0.010）和总生存期（OS ) (HR 0.29, p = 0.023; HR 0.28, p = 0.019)。GTR 也与更好的 OS 相关（HR 0.40，p = 0.039）。

该病例系列证明了 ETMR 病例之间的病理和临床异质性，以及分子遗传学方法在胚胎肿瘤中的诊断重要性，特别是在婴儿期。根据对分子一致的 ETMR 病例的分析结果，多模式治疗可能在这些肿瘤的预后中发挥重要作用。