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

ABSTRACT:

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 (<80 UK diagnoses/year) introduced a national reference centre (NRC) and assessed its performance and reporting to World Health Organisation standards. Paired frozen/formalin-fixed, paraffin-embedded tumour material were co-submitted from 135 patients (16 referral centres).

Results

Complete CPR diagnostics were successful for 88% (120/135). Ina

SUBMITTER: Crosier S 

PROVIDER: S-EPMC8600954 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature