Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis.
OBJECTIVE
To provide presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients in whom no NF2-mutations were found by screening their blood-DNA.


METHODS
Tumors of four patients were analyzed for NF2 allele losses and mutations.


RESULTS
Nonsense NF2 mutations and NF2 allele losses were found in all tumors. None of these alterations was found in any of eight children examined, suggesting that these children did not inherit the disease.


CONCLUSIONS
Finding two genetic alterations of a tumor suppressor gene in associated tumors is useful for presymptomatic diagnosis. Identification of the lost allele in tumors alone also enables exclusion of disease transmission in 50% of cases.
Kluwe
Lan
L
Laboratory of Brain Tumor Biology, Department of Neurosurgery, University Hospital Eppendorf, Hamburg, Germany.
Friedrich
Reinhard E
RE
Tatagiba
Marcos
M
Mautner
Victor F
VF
D000328:Adult; D000483:Alleles; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree
D018389:Codon, Nonsense