Chadda Karan R, Holland Katherine, Scoffings Daniel, Dean Andrew, Pickles Jessica C, Behjati Sam, Jacques Thomas S, Trotman Jamie, Tarpey Patrick, Allinson Kieren, Murray Matthew J
Department of Paediatric Haematology and Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Department of Neurosurgery, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Neuropathol Appl Neurobiol. 2021 Oct;47(6):882-888. doi: 10.1111/nan.12701. Epub 2021 Feb 22.
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.
在一例成星形细胞瘤病例中，甲基化分析未提供有用信息，与已知的中枢神经系统高等级神经上皮肿瘤伴MN1（CNS-HGNET-MN1）病例无聚类现象。然而，全基因组测序鉴定出一种新的MN1-GTSE1基因融合（图），证实了成星形细胞瘤的诊断，同时还发现了一种EWSR1-PATZ1基因融合。全基因组测序，连同甲基化谱分析和传统神经病理学，将继续改善对脑肿瘤患儿的诊断和预后评估。
