Prospective, multicentre validation of a platform for rapid molecular profiling of central nervous system tumours
The Oxford Nanopore-based workflow, Rapid-CNS2, together with MNP-Flex classified central nervous system tumours in under 30 minutes. The method detected key variants previously missed by short-read methods, and up to 94.6% of results matched standard diagnostic tests, highlighting the potential for this Oxford Nanopore-based approach to accelerate personalised cancer care in the future.
Key points:
Patel et al. combined Rapid-CNS2 (an adaptive sampling-based Oxford Nanopore sequencing workflow) with the methylation classifier MNP-Flex
Methylation classification and copy number profiles were reported within a 30-minute intraoperative window, and comprehensive molecular profiling followed within 24 hours
Rapid-CNS2 achieved concordance with current diagnostic tools in 285/301 cases (94.6%)
Oxford Nanopore sequencing detected clinically relevant mutations, fusions, and structural variants, including alterations missed by short-read methods
Watch Areeba Patel discuss this research at NCM 2021
'The fact that the capital expense for the smallest device allowing for Rapid-CNS2 is of the magnitude of one-fiftieth of the minimal required set-up for conventional methylation testing will likely facilitate swift proliferation of [Oxford Nanopore] technology'
Areeba Patel et al.
Sample type: human CNS tumour samples
