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A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management
Neuropathology and Applied Neurobiology ( IF 5 ) Pub Date : 2021-02-03 , DOI: 10.1111/nan.12701
Karan R Chadda 1 , Katherine Holland 2 , Daniel Scoffings 3 , Andrew Dean 4 , Jessica C Pickles 5 , Sam Behjati 1, 6 , Thomas S Jacques 5, 7 , Jamie Trotman 8 , Patrick Tarpey 8 , Kieren Allinson 4 , Matthew J Murray 1, 9 ,
Affiliation  

In a case of astroblastoma, methylation analysis was uninformative, with no clustering with known CNS-HGNET-MN1 cases. Whole genome sequencing however identified a novel MN1-GTSE1 gene fusion (image), confirming the diagnosis of astroblastoma, as well as an EWSR1-PATZ1 gene fusion. Whole genome sequencing, alongside methylation profiling and conventional neuropathology, will continue to lead to improved diagnostics and prognostication for children with brain tumours.
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中文翻译:

伴随 MN1-GTSE1 和 EWSR1-PATZ1 基因融合改变治疗的罕见小儿星形母细胞瘤病例

在星形母细胞瘤的情况下,甲基化分析没有提供信息,与已知的 CNS-HGNET-MN1 病例没有聚类。然而,全基因组测序发现了一种新的 MN1-GTSE1 基因融合(图像),证实了星形母细胞瘤的诊断,以及 EWSR1-PATZ1 基因融合。全基因组测序,连同甲基化分析和传统的神经病理学,将继续改善脑肿瘤儿童的诊断和预后。
图片
更新日期:2021-02-03
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