Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.
Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing benign and malignant tumours. The NF1 gene is thought to be a tumour suppressor gene, yet no direct proof at the molecular level exists to support this hypothesis. Here we describe a neurofibrosarcoma from a patient with NF1 with loss of heterozygosity for all chromosome 17 polymorphisms tested. On the remaining chromosome 17 homologue, a 200 kilobase (kb) tumour specific deletion of NF1 was demonstrated. This is the first example of a homozygous inactivation of NF1 at the molecular level in a malignant tumour from an NF1 patient and the results strongly support the tumour suppressor gene hypothesis for this disease.
Legius
E
E
Department of Pediatrics, University of Michigan, Ann Arbor 48109.
Marchuk
D A
DA
Collins
F S
FS
Glover
T W
TW
D000328:Adult; D001483:Base Sequence; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D016514:Genes, Neurofibromatosis 1; D016147:Genes, Tumor Suppressor; D006720:Homozygote; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D017384:Sequence Deletion
D004273:DNA, Neoplasm