Glioma Diagnostics in the Genetics Era
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".
Deadline for manuscript submissions: 25 September 2025 | Viewed by 100
Special Issue Editor
Special Issue Information
Dear Colleagues,
Integrating genetics into the diagnostic work-up of cancer has become commonplace, and indeed necessary, across many oncology fields. In tumors of the central nervous system (CNS), the inclusion of genetics into diagnostic practice became formalized in the 2016, and expanded upon in the 2022, World Health Organization (WHO) guidelines. By example, 1p/19q co-deletion being required to classify an “IGH-mutant oligodendroglioma” and differentiate it from “IDH-mutant astrocytoma.” The inclusion of genetics relieved the diagnostic ambiguity that plagued several notoriously challenging entities. However, the rapid expansion of genetic methods and new discoveries exceeded the speed at which new diagnostic guidelines could be published. As a result, this spurred a period of uncertainty as to how best to diagnose a tumor in an accurate, timely, and cost-effective manner.
An integrated approach leveraging the clinical presentation, morphological features, and genetic results likely reflects the most logical solution. However, this integrated approach has, at this time, not been formalized. In this special issue, we’ll provide editorials from stakeholders of different elements of this integrated approach: clinical oncologists, neuropathologists, clinical geneticists, and laboratorians. We’ll provide examples of the important blind-spots each strategy can address. In this respect, we hope to continue the on-going dialogue of how best to integrate the plethora of data now available to clinicians to provide the most accurate diagnosis and care to our patients.
Dr. Scott Ryall
Guest Editor
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Keywords
- glioma
- genetics
- diagnostics
- therapeutics
- histology
- sequencing
- methylation
- optical genome mapping
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