Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome
- Author(s)
- Staunton, J; Ajuyah, P; Harris, A; Mayoh, C; Wong, M; Rumford, M; Sullivan, PJ; Ekert, PG; Fuentes-Bolanos, N; Cowley, MJ; Lau, LMS; Ziegler, DS; Barahona, P; Manoharan, N;
- Details
- Publication Year 2024-10-19,Volume 8,Issue #1,Page 236
- Journal Title
- NPJ Precision Oncology
- Publication Type
- Research article
- 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.
- Publisher
- Springer Nature
- Department(s)
- Laboratory Research
- Publisher's Version
- https://doi.org/10.1038/s41698-024-00734-3
- Open Access at Publisher's Site
https://doi.org/10.1038/s41698-024-00734-3- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2024-11-07 06:46:50
Last Modified: 2024-11-07 06:54:52