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A polyphenotypic malignant paediatric brain tumour presenting a MN1‐PATZ1 fusion, no epigenetic similarities with CNS High‐Grade Neuroepithelial Tumour with MN1 Alteration (CNS HGNET‐MN1) and related to PATZ1 ‐fused sarcomas
Neuropathology and Applied Neurobiology ( IF 4.0 ) Pub Date : 2020-06-03 , DOI: 10.1111/nan.12626
F Burel-Vandenbos 1 , G Pierron 2 , C Thomas 3 , S Reynaud 2 , V Gregoire 4 , G Duhil de Benaze 5 , S Croze 6 , N Chivoret 7 , M Honavar 8 , D Figarella-Branger 9 , C-A Maurage 4 , F Pedeutour 10 , M Hasselblatt 3 , C Godfraind 11
Affiliation  

Central nervous system high-grade neuroepithelial tumour with MN1 alteration (CNS HGNET-MN1) is a brain tumour methylation class that has recently been identified, based on (epi)genetic profiles of a large CNS-PNETs cohort [1]. This class is characterized by MN1 gene rearrangements, with BEND2 being the most frequently reported fusion partner [1]. Histologically, tumours of this class show pseudopapillary architecture and dense stromal hyalinization [1], features characteristic of astroblastoma. The majority of cases within CNS HGNET-MN1 are represented by the latter, though histopathological aspects resembling ependymomas and not otherwise specified tumours may also be encountered [2]. It remains uncertain, however, if MN1 alterations are an exclusive anomaly of CNS HGNET-MN1.

中文翻译:

一种多表型恶性儿童脑肿瘤,表现为 MN1-PATZ1 融合,与具有 MN1 改变的 CNS 高级别神经上皮肿瘤 (CNS HGNET-MN1) 没有表观遗传相似性,并且与 PATZ1 融合肉瘤相关

具有 MN1 改变的中枢神经系统高级神经上皮肿瘤 (CNS HGNET-MN1) 是最近根据大型 CNS-PNET 队列的(表观)遗传谱确定的一种脑肿瘤甲基化类型 [1]。此类的特点是 MN1 基因重排,其中 BEND2 是最常报道的融合伙伴 [1]。在组织学上,此类肿瘤显示出假乳头状结构和致密的间质透明化 [1],具有星形母细胞瘤的特征。CNS HGNET-MN1 中的大多数病例由后者代表,尽管也可能遇到类似于室管膜瘤和未指定肿瘤的组织病理学方面 [2]。然而,仍然不确定 MN1 的改变是否是 CNS HGNET-MN1 的独有异常。
更新日期:2020-06-03
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