IDH-mutant Adult Gliomas Classification and Grading by Nanopore Technology

The 2021 WHO Classification of Tumors of the Central Nervous System adopted CDKN2A/B deletion marker into the revised grading criteria of IDH-mutant astrocytoma. The CDKN2A/B deletion in IDH-mutant astrocytoma was identified as independent molecular markers of the worst clinical outcomes. Currently, there is no standard assay to assess CDKN2A/B deletion, and current tests such as fluorescence in situ hybridization (FISH), array-based platforms require technical expertise and may not be readily available in routine laboratories. Here we demonstrated the nanopore-based copy number variation approach to identify deletions of CDKN2A/B for glioma diagnosis and grading within 4 hours.