Except for a mutation in one of seven (14%) meningeal hemangiopericytomas (codon 238; TGT-->TTT, Cys-->Phe), no mutations were observed in exons 5-8 of the p53 gene in any of the following tumors of the nervous system and its coverings: 13 schwannomas, 12 central neurocytomas, 22 meningiomas, 10 choroid plexus papillomas and carcinomas, and 30 neuroblastomas of the sympathetic nervous system.
Exome DNA sequencing of blood samples from a Li-Fraumeni family with a TP53 germline mutation (codon 236 deletion) and multiple nervous system tumors revealed additional germline mutations.
A genetic syndrome of cutaneous malignant melanoma and nervous system tumors recently has been characterized and shown to be linked to the INK4 locus in the 9p21 region.
Alterations in the ARF tumor suppressor protein (also known as p14ARF in humans and p19ARF in the mouse) occur frequently in cancer and are associated with susceptibility to melanoma, pancreatic cancer and nervous system tumors.
Neurofibromatosis 2 is caused by inactivating mutations of the NF2 gene, and is characterized by the development of nervous system tumours (mainly bilateral vestibular schwannomas), ocular abnormalities, and skin tumours.
Deficiency of the tumor suppressor protein merlin leads to the development of benign tumors of the nervous system such as schwannomas, ependymomas and meningiomas.
CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.
Children with a defective copy of the RB1 gene show increased susceptibility to retinoblastoma but not to other developmental tumors of the nervous system.
Coexpression of erythropoietin and vascular endothelial growth factor in nervous system tumors associated with von Hippel-Lindau tumor suppressor gene loss of function.
We analyzed exon 15 of BRAF spanning the V600 locus by direct sequencing in 1,320 adult and pediatric tumors of the nervous system including various types of glial, embryonal, neuronal and glioneuronal, meningeal, adenohypophyseal/sellar, and peripheral nervous system tumors.
The purpose of the present study was to assess the mutational state of the genes p14ARF, p15INK4b, p16INK4a, and PTEN in 64 human nervous system tumor samples.
Gangliocytoma is a benign tumour of unknown prevalence, belonging to central nervous system tumour with neuronal differentiation, and 129 cases have been reported in the literature. growth hormone (GH), adrenocorticotropic hormone (ACTH) or prolactin secretions have been reported, as these ganglion cell-like mature neurons are usually mixed with secreting pituitary endocrine cells.
Gangliocytoma is a benign tumour of unknown prevalence, belonging to central nervous system tumour with neuronal differentiation, and 129 cases have been reported in the literature. growth hormone (GH), adrenocorticotropic hormone (ACTH) or prolactin secretions have been reported, as these ganglion cell-like mature neurons are usually mixed with secreting pituitary endocrine cells.