Malignant meningioma in Gorlin's syndrome: cytogenetic and p53 gene analysis. Case report.
Gorlin's syndrome, also known as multiple basal cell carcinoma syndrome, is a familial tumor condition with autosomal-dominant inheritance. Patients develop multiple basal cell carcinomas beginning in childhood. They also have a typical dysmorphic facies, skeletal malformations, and a particular type of epithelial cyst of the jaws. Recent evidence localizes a Gorlin's syndrome locus on chromosome 9 at band q31. Both tumors and malformations of the central nervous system occur with Gorlin's syndrome. Medulloblastoma is the primary brain tumor most frequently associated with this syndrome; over 40 such cases have been reported. However, only seven cases of meningioma associated with Gorlin's syndrome have been described. The authors report the case of a woman with Gorlin's syndrome whose mother and maternal grandfather also had the condition. The patient was found to have a medulloblastoma at 4 years of age and presented with a large bifrontal meningioma at 19 years of age. The meningioma was histologically malignant and had a complex karyotype with multiple translocations including a t(5;9) with the breakpoint on chromosome 9 located at 9q32. The constitutional karyotype of the mother was normal. No mutations of exons 5 to 9 of the p53 gene were detected using single-stranded conformational polymorphism analysis.
Albrecht
S
S
Department of Pathology, Baylor College of Medicine, Houston, Texas.
Goodman
J C
JC
Rajagopolan
S
S
Levy
M
M
Cech
D A
DA
Cooley
L D
LD
D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000235:genetics; D001932:Brain Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D002899:Chromosomes, Human, Pair 9; D005260:Female; D016158:Genes, p53; D006801:Humans; D007621:Karyotyping; D008297:Male; D008579:Meningioma / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D014178:Translocation, Genetic