一例罕见的伴有MN1-GTSE1和EWSR1-PATZ1基因融合改变治疗方案的儿童成星形细胞瘤。
A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.
作者信息
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
机构信息
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.
出版信息
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。
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