1671P PRECISEKIDS: A nation-wide project for the comprehensive genomic profiling of paediatric solid tumours in Portugal

摘要: BackgroundPaediatric solid tumours (PST) are a leading cause of death in children aged 1-19 years. Our aim was to create a national network for the efficient delivery of a comprehensive genomic profiling of PST.MethodsA protocol between a molecular diagnostics laboratory and 3 reference centres in paediatric oncology was implemented. The protocol is active since January 2021 with the following inclusion criteria: age 0-18; newly diagnosed solid tumour/tumour like lesions; previously diagnosed solid tumour/tumour like lesion, presenting as refractory/relapsed disease; availability of tumour material; informed consent. Tumours were reviewed by expert pathologists and profiled with Oncomine Childhood Cancer Research Assay.ResultsAs of April 2022, we have molecularly profiled 97 PST, of which 39 were brain tumours (PBT) and 58 were extra-cranial solid tumours (PECST). Among PBT, BRAF was the most …