{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001007937"],"host":["EGA"],"description":["EGA study EGAS00001007937"],"dataset_title":["Dataset for EGAS00001007937"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["Turner Phenotype with Normal Karyotype, Noonan Syndrome 1, Ullrich Noonan Syndrome, Pseudo Ullrich Turner Syndrome, Female Pseudo-Turner Syndrome, Male, Male Turner's Syndrome, Turner Like Syndrome, Ullrich-Noonan Syndrome, Turner's Phenotype, patient, Familial, Noonan-Ehmke syndrome, Noonan-Ehmke Syndrome, Familial Turner Syndrome, Client, Turner-Like Syndrome, Turner Syndrome, Turner's Syndrome, Female Pseudo Turner Syndrome, Patient, Ullrich-Noonan syndrome, Clients, Noonan Ehmke Syndrome, Karyotype Normal, Pseudo-Ullrich-Turner Syndrome, pseudo-Ullrich-Turner syndrome, Female., Male Turner Syndrome, Pseudo-Turner Syndrome"],"description_synonyms":["Male, determination, Vegf120, glial tumors, Turner Like Syndrome, lambdatop, HBGFR, Individualized Medicine, Gene Expression Profile, dFGFR, central nervous system tumor, dev, Mixed Glioma, Profiles, DNA Methylations, Tumor, CD331, x1fgfr, DmelCG8318, Personal, [M]Glioma NOS (morphologic abnormality), CEK, GnRH-associated peptide, PDCD1L1, type I, Associations, DFGF-R1, Noonan Ehmke Syndrome, [M]Gliomas (morphologic abnormality), Eask, B7-H1, Btl, DFR2, peripheral type, Fgf-r, FLG, Psychological, treatment, CFC, Turner Phenotype with Normal Karyotype, Programmed death ligand 1, me75, DNA methylation maintenance, cek, glioma (morphologic abnormality), E030030H24Rik, Genomes, Neoplasm of the Neuroglia, type 1 neurofibromatosis, Turner's Phenotype, Familial, Hspy, SAP-2, DNA methylation, fgfr-1, Female, Dfr-2, D17Mit170, Signatures, T1, flg, BTL/FGFR2, Social, Turner Syndrome, Expression Signature, disease management, Therapies, Transcriptomes, Medicine, Gliomas (morphologic abnormality), Pseudo-Ullrich-Turner Syndrome, Social Power, LHRH prohormone GAP peptide, Male Turner Syndrome, Tk2, PDL1, Flt-2, Power, Tumors, Diagnostic Findings, Therapy, SIGNS SYMPTOMS, Glioma (except Nasal glioma, cHILD, pediatric interstitial lung disease, Male Turner's Syndrome, DESC, Expression Profiles, CG8318, bFGF-R-1, PTP2C, obsolete_glioma, Malignant Glioma, Psychological Powers, Tl3, Tl2, Fgfr-1, Gene Expression, Turner's Syndrome, XFGFR-1, PDCD1LG1, Syp, Personalized Medicine, VEGF-A, Expression Signatures, Recklinghausen's disease, B7-H, Gliomas, Glial Cell Tumor, Expression Profile, dNF1, child, Transcriptome Profiles, B7 homolog 1, Noonan Syndrome 1, ILD specific to childhood, DmelCG32134, FGFR-1, VPF, Vpf, Shp2, SHP2, Tumor of Neuroglia, whole genome, XFGFRA2, Noonan-Ehmke Syndrome, CNS neoplasm, Familial Turner Syndrome, Children, Treatments, GAP peptide, Tumor of the Neuroglia, Theranostics, c-fgr, VEGFA, not neoplastic), Glioma, pseudo-Ullrich-Turner syndrome, l(3)00208, DNA, WSS, malignant (morphologic abnormality), Powers, Clinical Finding, Neoplasms of Neuroglia, Methylation, vegfa, Pseudo-Turner Syndrome, Glioma NOS, Psychological Power, SHPTP2, Ullrich Noonan Syndrome, Pseudo Ullrich Turner Syndrome, young adult, Transcriptome Profile, Professional Power, HRTFDS, NS1, Ullrich-Noonan Syndrome, Gene, Neuroglial Tumor, Noonan-Ehmke syndrome, neurofibromatosis, Malignant, Symptoms and Signs, KAL2, CHILD, kal2, rGAP, central nervous system tumour, HH2, SHP-2, Low, Precision, Finding, interstitial lung disease of childhood, vegf-a, increase in risk, Mixed Gliomas, bfgfr, VEGF164, CD274, flt-2, 0844/01, Female Pseudo-Turner Syndrome, Individualized, fgfr1, Glioma NOS (morphologic abnormality), BFGFR, Profile, FGFBR, Glial Neoplasm, Nf-1, PD-L1, NFNS, X1FGFR, Turner-Like Syndrome, paediatric interstitial lung disease, VRNF, CG6714, chILD, juvenile stage, childhood interstitial lung disease, FGFR, OGD, PTP1D, Karyotype Normal, [M]Gliomas, AW208770, Predictive, NF1, NF-1, nf1, von Reklinghausen disease, Tumors of Neuroglia, hGAP., Methylations, hGAP, SH-PTP3, FGFR1, SH-PTP2, FLT2, Transcriptome, cou, AW536184, Vegf164, Predictive Medicine, malignant, ogd, FLT-2, D-FGFR, dtk2, Personalized, PTP-1D, xfgfr1, N-SAM, neurofibromatosis type 1 microdeletion syndrome, Signs and Symptoms, Female Pseudo Turner Syndrome, Lr, fgf-r, Ullrich-Noonan syndrome, DmHD-311, Gene Expression Signatures, chemical analysis, PDCD1 ligand 1, flt2, Professional, Mixed, Gene Expression Signature, [M]Glioma NOS, methylation, B7H1, Glial Tumor, MVCD1, NOS (except Nasal glioma, Vegf, Neuroglial Neoplasm, Vegf188, Neuroglial Neoplasms, 2700084A17Rik, Glial Cell, Malignant glioma, chILD syndrome, Von Recklinghausen disease, Theranostic, MFR, CG32134, Neoplasm of Neuroglia, CT20816, Personal Power, VEGF, no ICD-O subtype, Therapeutic, P-Health, children's interstitial lung disease, Gene Expression Profiles, BPTP3, Power (Psychology), Glial Cell Tumors, Bra, AW494271, ptp-2, Malignant Gliomas, HD-311, Treatment, P Health, assay, Signature, Dtk2, vegf"],"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":{"updated":"2024-10-28 10:42:00"},"accession":"EGAS00001007937","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001015412","EGAC00001002966"]}}