“Updates on diagnostic and prognostic molecular biomarkers of CNS tumors”
- 1Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Corresponding author.
- 2Laboratory Medicine Program, Department of Pathology, University Health Network, Toronto, ON, Canada; Department of Pathology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia
- 3Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada
Abstract
The diagnosis and classification of central nervous system (CNS) tumors has undergone a paradigm shift over the past decade, evolving from a purely histology-based approach to an integrated framework that incorporates molecular and epigenetic features. This review summarizes recent updates in key genomic and epigenomic biomarkers across major CNS tumor categories, with a focus on their diagnostic, prognostic, and therapeutic implications. DNA methylation profiling has emerged as a valuable tool for tumor classification, subgrouping, and grading, complementing traditional histopathologic assessment. Across diffuse gliomas, newly characterized molecular alterations have refined grading criteria and clarified the boundaries between tumor types, including important caveats about the use of individual molecular features as sole diagnostic criteria. In ependymomas, medulloblastomas, atypical teratoid/rhabdoid tumors, meningiomas, pineal tumors, and embryonal tumors, methylation profiling now defines biologically and clinically meaningful subgroups that inform risk stratification and treatment selection. The emerging recognition of mismatch repair-deficient gliomas and fusion-driven tumor entities further underscores the expanding complexity of CNS tumor taxonomy. As molecular technologies continue to advance, the integration of genomic, epigenomic, histopathologic, and clinical data will be essential to improving diagnostic precision, guiding therapy, and ultimately enhancing patient outcomes.
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BibTeX
@article{eaton2026updates,
title = {{“Updates on diagnostic and prognostic molecular biomarkers of CNS tumors”}},
author = {Shane Eaton and Ahmad Almotairi and Adrian Levine and Cynthia Hawkins},
journal = {Neurotherapeutics},
year = {2026},
month = oct,
doi = {10.1016/j.neurot.2026.e01066},
url = {https://doi.org/10.1016/j.neurot.2026.e01066},
note = {CC BY},
}
RIS
TY - JOUR
TI - “Updates on diagnostic and prognostic molecular biomarkers of CNS tumors”
AU - Shane Eaton
AU - Ahmad Almotairi
AU - Adrian Levine
AU - Cynthia Hawkins
PY - 2026
DA - 2026/10/24
JO - Neurotherapeutics
DO - 10.1016/j.neurot.2026.e01066
UR - https://doi.org/10.1016/j.neurot.2026.e01066
AB - The diagnosis and classification of central nervous system (CNS) tumors has undergone a paradigm shift over the past decade, evolving from a purely histology-based approach to an integrated framework that incorporates molecular and epigenetic features. This review summarizes recent updates in key genomic and epigenomic biomarkers across major CNS tumor categories, with a focus on their diagnostic, prognostic, and therapeutic implications. DNA methylation profiling has emerged as a valuable tool for tumor classification, subgrouping, and grading, complementing traditional histopathologic assessment. Across diffuse gliomas, newly characterized molecular alterations have refined grading criteria and clarified the boundaries between tumor types, including important caveats about the use of individual molecular features as sole diagnostic criteria. In ependymomas, medulloblastomas, atypical teratoid/rhabdoid tumors, meningiomas, pineal tumors, and embryonal tumors, methylation profiling now defines biologically and clinically meaningful subgroups that inform risk stratification and treatment selection. The emerging recognition of mismatch repair-deficient gliomas and fusion-driven tumor entities further underscores the expanding complexity of CNS tumor taxonomy. As molecular technologies continue to advance, the integration of genomic, epigenomic, histopathologic, and clinical data will be essential to improving diagnostic precision, guiding therapy, and ultimately enhancing patient outcomes.
SN - 1878-7479
SN - 1933-7213
ER -