title: 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.
authors.affiliation: Institut fur Medizinische Genetik, Universitätsklinikum, Berlin, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Thiel
authors.forename: K
authors.initials: K
authors.lastname: Marczinek
authors.forename: R
authors.initials: R
authors.lastname: Neumann
authors.forename: R
authors.initials: R
authors.lastname: Witkowski
authors.forename: D A
authors.initials: DA
authors.lastname: Marchuk
authors.forename: P
authors.initials: P
authors.lastname: Nurnberg
mesh_terms: D000368:Aged; D001254:Astrocytoma / Q000235:genetics; D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics*; D004806:Ependymoma / Q000235:genetics; D017353:Gene Deletion; D016514:Genes, Neurofibromatosis 1; D005909:Glioblastoma / Q000235:genetics; D005910:Glioma / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D017599:Neuroectodermal Tumors / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D018076:DNA, Complementary; D004273:DNA, Neoplasm