{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Staunton J"],"funding":["Department of Health | National Health and Medical Research Council (NHMRC)"],"pagination":["236"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11490609"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(1)"],"pubmed_abstract":["Noonan Syndrome (NS) is associated with an increased risk of low-grade central nervous system tumours in children but only very rarely associated with high-grade gliomas. Here we describe the first reported case of a spinal high-grade astrocytoma with piloid features (HGAP) in a child with NS. This case was a diagnostic and treatment dilemma, prior to whole-genome germline and tumour sequencing, tumour transcriptome sequencing and DNA methylation analysis. The methylation profile matched strongly with HGAP and sequencing identified somatic FGFR1 and NF1 variants and a PTPN11 germline pathogenic variant. Therapeutic targets were identified but also alterations novel to HGAP such as differential expression of VEGFA and PD-L1. The germline PTPN11 finding has not been previously described in individuals with HGAP. This case underscores the power of precision medicine from a diagnostic, therapeutic and clinical management perspective, and describes an association between HGAP and NS which has not previously been reported."],"journal":["NPJ precision oncology"],"pubmed_title":["Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome."],"pmcid":["PMC11490609"],"funding_grant_id":["Synergy Grant #2019056","Leadership Grant APP2017898"],"pubmed_authors":["Mayoh C","Cowley MJ","Staunton J","Ziegler DS","Rumford M","Lau LMS","Harris A","Manoharan N","Ekert PG","Sullivan PJ","Ajuyah P","Wong M","Fuentes-Bolanos N","Barahona P"],"additional_accession":[]},"is_claimable":false,"name":"Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome.","description":"Noonan Syndrome (NS) is associated with an increased risk of low-grade central nervous system tumours in children but only very rarely associated with high-grade gliomas. Here we describe the first reported case of a spinal high-grade astrocytoma with piloid features (HGAP) in a child with NS. This case was a diagnostic and treatment dilemma, prior to whole-genome germline and tumour sequencing, tumour transcriptome sequencing and DNA methylation analysis. The methylation profile matched strongly with HGAP and sequencing identified somatic FGFR1 and NF1 variants and a PTPN11 germline pathogenic variant. Therapeutic targets were identified but also alterations novel to HGAP such as differential expression of VEGFA and PD-L1. The germline PTPN11 finding has not been previously described in individuals with HGAP. This case underscores the power of precision medicine from a diagnostic, therapeutic and clinical management perspective, and describes an association between HGAP and NS which has not previously been reported.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-06-01T13:16:28.236Z","creation":"2025-04-04T22:47:52.397Z"},"accession":"S-EPMC11490609","cross_references":{"pubmed":["39427038"],"doi":["10.1038/s41698-024-00734-3"]}}