SOMATIC MUTATIONS IN THE NEUROFIBROMATOSIS-1 GENE IN GLIOMAS AND PRIMITIVE NEUROECTODERMAL TUMORS

The increased frequency of glioma among neuro-fibromatosis 1 (NF1) pat ients suggests a general involvement of the NF1 gene in glioma tumouri genesis. Using the methodology of conventional Southern blotting with a complete panel of overlapping partial cDNAs covering the whole NF1 g ene, we screened 31 gliomas of several different subtypes and 3 primit ive 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 astrocyto ma, 2 glioblastomas, 1 ependymoma and 1 PNET with an astrocytic compon ent. These results suggest that the NF1 gene is important in suppressi ng tumours of neuroectodermal origin.