Advanced molecular pathology for rare tumours: A national feasibility study and model for centralised medulloblastoma diagnostics,Neuropathology and Applied Neurobiology

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Advanced molecular pathology for rare tumours: A national feasibility study and model for centralised medulloblastoma diagnostics
Neuropathology and Applied Neurobiology ( IF 4.0 ) Pub Date : 2021-04-07 , DOI: 10.1111/nan.12716
Stephen Crosier _{1,

2} , Debbie Hicks ₁ , Edward C Schwalbe _{1,

3} , Daniel Williamson ₁ , Sarah Leigh Nicholson ₂ , Amanda Smith ₁ , Janet C Lindsey ₁ , Antony Michalski ₄ , Barry Pizer ₅ , Simon Bailey ₁ , Nick Bown ₂ , Gavin Cuthbert ₂ , Stephen B Wharton ₆ , Thomas S Jacques ₇ , Abhijit Joshi ₂ , Steven C Clifford ₁

Affiliation

Application of advanced molecular pathology in rare tumours is hindered by low sample numbers, access to specialised expertise/technologies and tissue/assay QC and rapid reporting requirements. We assessed the feasibility of co-ordinated real-time centralised pathology review (CPR), encompassing molecular diagnostics and contemporary genomics (RNA-seq/DNA methylation-array).

中文翻译：

罕见肿瘤的高级分子病理学：集中髓母细胞瘤诊断的国家可行性研究和模型

先进分子病理学在罕见肿瘤中的应用受到样本数量少、获得专业知识/技术和组织/分析 QC 和快速报告要求的阻碍。我们评估了协调实时集中病理学审查 (CPR) 的可行性，包括分子诊断和当代基因组学（RNA-seq/DNA 甲基化阵列）。

更新日期：2021-04-07

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