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• W4308458448 abstract "The introduction of molecular methods into the diagnostics of central nervous system (CNS) tumours and the subsequent deciphering of their molecular heterogeneity has resulted in a significant impact on paediatric neurooncology. Particularly in the field of rare embryonal and sarcomatous CNS tumours, novel tumour types have been delineated and introduced in the recent 5th edition of the WHO classification of CNS tumours. The rarity and novelty of these tumour types result in diagnostic and therapeutic challenges. Apart from distinct histopathological and molecular features, these tumour types exhibit characteristic clinical properties and require different therapeutic approaches for optimal patient management. However, based on the limited availability of clinical data, current therapeutic recommendations have to be based on data from small, predominantly retrospective patient cohorts. Within this article, we provide guidance for diagnostic work-up and clinical management of rare CNS embryonal tumours ('embryonal tumour with multi-layered rosettes', ETMR; 'CNS neuroblastoma, FOXR2-activated', CNS NB-FOXR2; 'CNS tumour with BCOR-ITD, CNS BCOR-ITD) and rare CNS sarcomatous tumours ('primary intracranial sarcoma, DICER1-mutant', CNS DICER1; 'CIC-rearranged sarcoma', CNS CIC). By emphasizing the significant consequences on patient management in paediatric CNS tumours, we want to encourage wide implementation of comprehensive molecular diagnostics and stress the importance for joint international efforts to further collect and study these rare tumour types." @default.
• W4308458448 created "2022-11-12" @default.
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• W4308458448 date "2023-01-01" @default.
• W4308458448 modified "2023-10-14" @default.
• W4308458448 title "Rare embryonal and sarcomatous central nervous system tumours: State-of-the art and future directions" @default.
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• W4308458448 doi "https://doi.org/10.1016/j.ejmg.2022.104660" @default.
• W4308458448 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36356895" @default.
• W4308458448 hasPublicationYear "2023" @default.
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