Molecular pathology selected abstracts
June 2025—Comprehensive molecular profiling and DNA methylation classification have become critical for diagnosing and managing central nervous system tumors. However, workflows for molecular testing of these tumors are often limited by the cost of equipment and reagents, technical complexity, and lengthy turnaround times. The wide range of alterations that can be present, including MGMT promoter methylation, single nucleotide variants, insertions or deletions (indels), copy number variants, and fusions and structural variants, often necessitate the use of multiple assays for a complete molecular workup. All of these factors have led to a growing demand for molecular assays that are faster, more comprehensive, and more accessible. Recognizing this need, the authors had previously conducted a proof-of-concept study of an adaptive sampling-based nanopore sequencing workflow platform, called Rapid-CNS2, that they had developed.