Advanced molecular pathology for rare tumours: a national feasibility study and model for centralised medulloblastoma diagnostics

Autor:	Janet C. Lindsey, Edward C. Schwalbe, Stephen Crosier, Nick Bown, Sarah Leigh Nicholson, Barry Pizer, Daniel Williamson, Amanda Smith, Simon Bailey, Steven C. Clifford, Abhijit Joshi, Thomas S. Jacques, Debbie Hicks, Antony Michalski, Stephen B. Wharton, Gavin Cuthbert
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Male 0301 basic medicine Oncology medicine.medical_specialty Histology Adolescent B100 Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine molecular pathology Physiology (medical) Internal medicine Exome Sequencing diagnostics Biomarkers Tumor medicine Humans Genetic Predisposition to Disease Sampling (medicine) Pathology Molecular Cerebellar Neoplasms Child Combined method Medulloblastoma business.industry Molecular pathology C100 biomaterial biomarkers pathology review Original Articles Genomics medicine.disease Molecular diagnostics 030104 developmental biology Neurology Child Preschool Research studies Biomarker (medicine) Original Article Female Who criteria Neurology (clinical) business 030217 neurology & neurosurgery
Zdroj:	Neuropathology and Applied Neurobiology
ISSN:	0305-1846
Popis:	Aims 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). Methods This nationwide trial in medulloblastoma ( 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 undertook a UK‐wide trial in medulloblastoma (
Databáze:	OpenAIRE
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