Somatic mutations in the neurofibromatosis 1 gene in gliomas and primitive neuroectodermal tumours.

Abstract

The increased frequency of glioma among neurofibromatosis 1 (NF1) patients suggests a general involvement of the NF1 gene in glioma tumourigenesis. Using the methodology of conventional Southern blotting with a complete panel of overlapping partial cDNAs covering the whole NF1 gene, we screened 31 gliomas of several different subtypes and 3 primitive neuroectodermal tumours (PNETs) from non-NF1 patients for aberrant restriction patterns in their tumour DNA samples. Clear evidence for somatic mutation events at the NF1 gene locus was found in 1 astrocytoma, 2 glioblastomas, 1 ependymoma and 1 PNET with an astrocytic component. These results suggest that the NF1 gene is important in suppressing tumours of neuroectodermal origin.

Keywords

NeurofibromatosisGliomaBiologyPrimitive neuroectodermal tumorAstrocytomaSomatic cellNeuroectodermal tumorLocus (genetics)Neurofibromin 1Germline mutationGene mutationGeneCancer researchPathologyEpendymomaMutationGeneticsMedicineImmunohistochemistryImmunologyChemotherapy

Affiliated Institutions

Institut für Medizinische Informatik, Biometrie und Epidemiologie DE

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Publication Info

Year: 1996
Type: article
Volume: 15
Issue: 6B
Pages: 2495-9
Citations: 21
Access: Closed

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APA Style

                            
                                    Gundula Thiel, 
                                
                                    Karola Marczinek, 
                                
                                    Regina Neumann
                                
                                et al.
                            
                            (1996). 
                            Somatic mutations in the neurofibromatosis 1 gene in gliomas and primitive neuroectodermal tumours.. 
                            PubMed
                            , 15
                            (6B)
                            , 2495-9.