ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumor diagnosis
Menée à partir d'échantillons de tumeurs cérébrales, cette étude met en évidence l'intérêt d'un outil, basé sur la technologie de séquençage par nanopores PromethION, pour établir un diagnostic moléculaire complet en moins de 2 heures
The 2021 WHO classification of CNS tumors substantially increased the mandated use of molecular testing in the diagnosis of CNS tumors. In particular, DNA methylation-based classification is now an essential criterion in the routine diagnosis of many tumor subtypes.1 DNA methylation of cytosines is maintained across cell divisions and is a means by which histogenesis can be traced to the cellular origin, despite neoplastic dedifferentiation.2,3 Currently, testing is implemented by microarray-based methods, such as Illumina EPIC arrays, which, because of high capital costs, are restricted to specialist tertiary care centers where high throughput can reduce per-assay costs.4 This requires inter-regional sample transport and multiplexed batch processing, which can cause diagnostic delays, with average turnaround times between several days to weeks.4
Neuro-Oncology , article en libre accès, 2025