The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics - PubMed
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- #WHO Classification
- #Genetic Tumour Syndromes
- #Cellular Mechanisms
- The WHO Classification of Tumours has widely included genetic tumour syndromes (GTS) but lacked a systematic classification for them.
- A hierarchical classification of GTS was developed based on affected cellular mechanisms, molecular pathways, clinical syndromes, and gene defects.
- Major affected cellular mechanisms include growth factor receptors, oxidative stress response, cell cycle, DNA repair, telomere maintenance, epigenetic drivers, and RNA/protein regulation.
- The classification emphasizes current knowledge gaps and the need for further research while providing an internationally agreed framework for updates.
- It aims to establish international standards for diagnosis and a basis for research on genetic tumour syndromes.