ArticleNPJ precision oncology2024
Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome.
Article in NPJ precision oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Should checkpoint inhibitors be reserved for biomarker-selected pediatric brain tumors?Journal of neuro-oncology · 2026Pooled it
- High-grade astrocytoma with piloid features: A clinical and genomic analysis of prognostic factors using a large cohort.Neuro-oncology · 2026Article
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.Research square · 2026Article
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.medRxiv : the preprint server for health sciences · 2026Article
- High-Grade Astrocytoma With Piloid Features: An Aggressive Clinicogenomic Entity Distinct From Pilocytic Astrocytoma.Journal of Korean medical science · 2026Article
- ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital.Acta neuropathologica communications · 2025Article
Corrections and comments
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Authors and funding
14 authors.
Funding
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.
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Registered trials
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