Neurol. praxi. 2024;25(4):282-286 | DOI: 10.36290/neu.2024.016
Current standards for molecular pathological testing of central nervous system tumours
- 1 Ústav patologie 3. LF UK a FNKV, Praha
- 2 Centrální laboratoře FNKV, Laboratoř genomické medicíny, Praha
- 3 Ústav patologie a molekulární medicíny 3. LF UK a FTN, Praha
- 4 Ústav patologie 1. LF UK a VFN, Praha
The standards of molecular-pathological testing are transforming with the fifth edition of the WHO classification of central nervous system tumors. A significant change involves incorporating molecular genetic testing and adopting a comprehensive diagnostic approach. Certain tumors require examining the molecular profile for accurate classification, typically analyzing single nucleotide variants, deletions, codeletions, fusions, or methylation. Molecular methods extend the diagnostic spectrum beyond histopathological and immunohistochemical assessments, using techniques like PCR, Sanger sequencing, I-FISH, MLPA, and/or NGS. Collaboration among neuropathologists, molecular geneticists, and neurooncologists is crucial for accurate diagnosis and preventing potential harm to patients.
Keywords: CNS Tumors, WHO classification, molecular pathology.
Received: January 9, 2024; Revised: March 4, 2024; Accepted: March 5, 2024; Prepublished online: March 5, 2024; Published: September 10, 2024 Show citation
References
- Archer FUSIONPlex Pan Solid Tumor v2 panel https://eu.idtdna.com/pages/products/next‑generation‑sequencing/archer‑ngs‑assay‑solutions/solid‑tumor‑research/archer‑fusionplex‑pan‑solid‑v2-panel [Internet] [Cit. 21. 12. 2023]. Available from: https://eu.idtdna.com/pages/products/next‑generation‑sequencing/archer‑ngs‑assay‑solutions/solid‑tumor‑research/archer‑fusionplex‑pan‑solid‑v2-panel.
- Capper D, Jones DTW, Sill M, et al. DNA methylation‑based classification of central nervous system tumours. Nature. 2018;555(7697):469-474. https://doi.org/10.1038/nature26000.
Go to original source... 
Go to PubMed... - Capper D, Stichel D, Sahm F, et al. Practical implementation of DNA methylation and copy‑number‑based CNS tumor diagnostics: The Heidelberg experience. Acta Neuropathologica. 2018;136(2):181-210. https://doi.org/10.1007/s00401-018-1879-y. Go to original source... Go to PubMed...
- MolecularNeuropathology.org - The platform for next generation neuropathology [Internet]. [Cit. 19. 12. 2023]. Available from: z https://www.molecularneuropathology.org/.
- Mrcholland.com. [Internet] [Cit. 19. 12. 2023]. Available from: https://www.mrcholland.com/.
- Koblížek M, Zámečník J. Nádory CNS dětí - nový pohled. Neurol. praxi. 2024;25(4):263-266. Go to original source...
- Li MM, Datto M, Duncavage EJ, et al. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. The Journal of Molecular Diagnostics: JMD. 2017;19(1):4-23. Available from: https://doi.org/10.1016/j.jmoldx.2016. 10. 002. Go to original source...
- Louis DN, Perry A, Wesseling P, et al. The 2021 WHO Classification of Tumors of the Central Nervous System: A summary. Neuro‑Oncology. 2021;23(8):1231-1251. Available from: https://doi.org/10.1093/neuonc/noab106. Go to original source... Go to PubMed...
- Serrano J, Snuderl M. Whole Genome DNA Methylation Analysis of Human Glioblastoma Using Illumina BeadArrays. Methods in Molecular Biology (Clifton, N.J.). 2018;1741:31-51. Available from: https://doi.org/10.1007/978-1-4939-7659-1_2. Go to original source... Go to PubMed...
- Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation‑dependent probe amplification. Nucleic Acids Research. 2002;30(12):e57-e57. https://doi.org/10.1093/nar/gnf056. Go to original source... Go to PubMed...
- Smrčka M, Belanová R, Fadrus P, et al. KDP: Gliomy mozku - diagnostika a léčba [online]. Praha: ÚZIS ČR, 2020. [Cit. 21. 12. 2023]. Available from: https://kdp.uzis.cz.
- Švajdler M, Švajdler P, Koleják R, et al. Praktická diagnostika nádorov CNS podľa WHO klasifikácie 2021: Všeobecné zmeny a diagnostika difúznych gliómov. Neurol. praxi. 2024;25(4):256-262. Go to original source...
- Thorvaldsdóttir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): High‑performance genomics data visualization and exploration. Briefings in Bioinformatics. 2013;14(2):178-192. Available from: https://doi.org/10.1093/bib/bbs017. Go to original source... Go to PubMed...
- WHO Classification of Tumours Editorial Board. (2021). World Health Organization Classification of Tumours of the Central Nervous System (5. vyd.). Lyon: International Agency for Research on Cancer. 568 s. ISBN 9789283245087.