Department of Neuropathology, Institute of Neurology and Huashan Hospital of Fudan University, Shanghai, China.
Neuropathology. 2011 Dec;31(6):639-47. doi: 10.1111/j.1440-1789.2011.01215.x. Epub 2011 Apr 11.
Recently, the term "embryonal tumor with multilayered rosettes" (ETMR), including embryonal tumor with abundant neuropil and true rosettes (ETANTR) and ependymoblastoma (EBL) as a distinct tumor entity, has become an important topic of discussion for neuropathologists since the discovery of a unique genomic alteration in 2009. Here, we contribute two new East Asian instances of ETANTR in a 29-month-old boy who underwent subtotal resection of a large tumor in the bilateral parieto-occipital lobes and a 4-year-old boy who underwent subtotal resection of the right midpontine neoplasm. Both tumors showed a typical histopathological pattern of hypercellular clusters of undifferentiated small cells and ependymoblastic rosettes admixed with paucicellular neuropil-like zones indicative for ETANTR. Rare Homer-Wright neuroblastic rosettes and papillary pseudorosettes, as well as enlarged lumina with mucinous material, were also observed. Immunohistological studies revealed that tumor cells in hypercellular and paucicellular zones were diffusely positive for microtubule-associated protein 2; ependymoblastic rosette cells stained with epithelial membrane antigen at the luminal membrane and exhibiting strong immunoreactivity with p53 protein. β-Catenin and Nestin were frequently detected in the hypercellular zones as well as in the ependymoblastic rosettes. Fluorescence in situ hypribization analysis revealed that both cases contained a unique focal amplification at the 19q13.42 chromosome locus and chromosome 2 polysomy. A new WHO classification of tumors of the CNS should be considered for these neoplasms with unique focal amplification at the 19q13.42 chromosome locus, based on the clinicopathological and molecular features of ETANTR that are distinct and reproducibly recognizable.
最近，“具有多层玫瑰花结的胚胎肿瘤”（ETMR）一词，包括具有丰富神经胶和真性玫瑰花结的胚胎肿瘤（ETANTR）和室管膜母细胞瘤（EBL），作为一个独特的肿瘤实体，自 2009 年发现一种独特的基因组改变以来，一直是神经病理学家讨论的重要话题。在这里，我们贡献了两个新的东亚 ETANTR 病例，一个是 29 个月大的男孩，他在双侧顶枕叶进行了大部分肿瘤切除术，另一个是 4 岁的男孩，他在右桥脑进行了大部分肿瘤切除术。两个肿瘤均表现出典型的组织病理学模式，即未分化的小细胞的高细胞簇和混合有少细胞神经胶样区的室管膜母细胞瘤玫瑰花结，提示为 ETANTR。还观察到罕见的 Homer-Wright 神经母细胞瘤玫瑰花结和乳头状假玫瑰花结，以及伴有粘蛋白物质的扩大腔。免疫组织化学研究显示，高细胞区和少细胞区的肿瘤细胞弥漫性表达微管相关蛋白 2；室管膜母细胞瘤玫瑰花结细胞在腔膜上呈上皮膜抗原阳性，并且对 p53 蛋白表现出强烈的免疫反应性。β-连环蛋白和巢蛋白在高细胞区以及室管膜母细胞瘤玫瑰花结中经常被检测到。荧光原位杂交分析显示，两个病例均在 19q13.42 染色体位点和 2 号染色体三体上存在独特的局灶性扩增。鉴于 ETANTR 的独特的局灶性 19q13.42 染色体位点扩增，基于其临床病理和分子特征，这些肿瘤应被认为是 CNS 肿瘤的一种新的 WHO 分类。
