title: Genetic alterations in a papillary glioneuronal tumor.
abstract: Papillary glioneuronal tumors (PGNTs) are rare lesions of the central nervous system, and no information exists on the genetic alterations in these neoplasms. The authors report on such a case in a child. Genetic studies revealed that the tumor was characterized by gains and structural alterations involving only chromosome 7 with breakpoints at 7p22. By using comparative genomic hybridization, the authors observed a high-level amplification region at 7p14~q12. Fluorescence in situ hybridization with a probe for EGFR revealed that this gene was not amplified. Similar to other patients with PGNTs, the patient in the present case fared well. From a genetic point of view the data in the present case are in accordance with previous findings of EGFR amplifications as uncommon in low-grade gliomas and gangliogliomas. Recurrent rearrangements of chromosome 7 have been noted in other mixed glioneuronal tumors. The data in this case suggest that genes located at chromosome 7 can also be involved in the pathogenesis of PGNT. In clinical terms it will be especially important to corroborate, through the analysis of further cases, the involvement of the chromosome 7p22 locus, a region where glial and neuronal linked genes (RAC1 and NXPH1) are known to be located.
authors: Department of Neurosurgery, Hospital de Santa Maria, Lisbon, Portugal.
authors: Claudia
authors: C
authors: Faria
authors: José
authors: J
authors: Miguéns
authors: João Lobo
authors: JL
authors: Antunes
authors: Cândida
authors: C
authors: Barroso
authors: José
authors: J
authors: Pimentel
authors: Maria Do Carmo
authors: Mdo C
authors: Martins
authors: Vasco
authors: V
authors: Moura-Nunes
authors: Lúcia
authors: L
authors: Roque
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D002648:Child; D019457:Chromosome Breakage; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D018303:Ganglioglioma / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D018773:Genes, erbB-1; D005838:Genotype; D005904:Glial Fibrillary Acidic Protein / Q000276:immunology; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008279:Magnetic Resonance Imaging; D009361:Neoplasm Invasiveness; D009479:Neuropeptides / Q000235:genetics; D019635:Neurosurgical Procedures / Q000379:methods; D009693:Nucleic Acid Hybridization / Q000235:genetics; D010641:Phenotype; D009418:S100 Proteins / Q000276:immunology; D013702:Temporal Lobe / Q000276:immunology / Q000473:pathology* / Q000601:surgery; D020830:rac1 GTP-Binding Protein / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein; D006023:Glycoproteins; D009479:Neuropeptides; C107953:RAC1 protein, human; D009418:S100 Proteins; C112162:neurexophilin; D020830:rac1 GTP-Binding Protein