Malignant meningioma in Gorlin's syndrome: cytogenetic and p53 gene analysis

Abstract

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.

Nevoid Basal Cell Carcinoma Syndrome With Medulloblastoma and Meningioma-Case Report-

“…Nevoid basal cell carcinoma syndrome associated with both medulloblastoma and meningioma has been reported in only two patients, in whom the meningioma was probably induced by the radiation. 1,12) In our case, there was no clear evidence that the meningioma occurred following irradiation of the medulloblastoma or any association with nevoid basal cell carcinoma syndrome. However, meningioma is known to occur within the irradiated field for medulloblastoma.…”

“…Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder linked to chromosome 9q22.3-q31 (40% of new cases are sporadic) 1,12) and may be related to PTCHgene. 3,9) More than 30 different malformations and benign or malignant tumors have been associated with this syndrome.…”

“…This syndrome involves the central nervous system, so is reportedly associated with medulloblastoma, meningioma, craniopharyngioma, mental retardation, calcification of the falx cerebri, agenesis of the corpus callosum, and sellar bridging. 1,2,6,8,10,11,13) More than 40 cases of nevoid basal cell carcinoma syndrome associated with medulloblastoma have been reported. The mean age of the patients was 2 years, whereas patients with only medulloblastoma Nevoid Basal Cell Carcinoma Syndrome have a mean age of 6 years, but patients with this syndrome tend to survive longer than patients without the syndrome.…”

“…Only 10 cases of nevoid basal cell carcinoma with meningioma, including the present case, have been reported (Table 1). 1,2,4,8,[11][12][13][14][15] The age of the patients ranged from 18 years to 64 years, with no sex preponderance. Four patients had received irradiation and two had histologically diagnosed malignant tumors.…”

Second neoplasms in pediatric patients with primary central nervous system tumors

“…A small number of case reports and only two series have demonstrated this relation with respect to syndromes other than NF1. 3,13,[22][23][24] Kingston et al reported that a genetic condition other than NF1 was present in 5 of 45 children (11%) with primary CNS tumors who later experienced an SN; 3 of those patients had Gorlin syndrome, 1 patient had Turcot syndrome, and 1 patient had tuberous sclerosis. 3 In the other series, two patients with Gorlin syndrome were among the four patients overall who developed an SN.…”