The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma

Abstract

We have investigated the incidence of Gorlin syndrome (GS) in patients with the childhood brain tumour, medulloblastoma. One hundred and seventy-three consecutive cases of medulloblastoma in the North-West Regional Health Authority between 1954 and 1989 (Manchester Regional Health Board before 1974) were studied. After review of case notes, X-rays and health surveys only 2/173 cases had evidence supporting a diagnosis of GS. A further case at 50% risk of GS died of a brain tumour aged 4 years. The incidence of GS in medulloblastoma is, therefore, probably between 1-2%. A population based study of GS in the region started in 1983 was used to assess the incidence of medulloblastoma in GS, which was found to be between 3-5%. This figure is lower than previous estimates, but this is the first population based study undertaken. In view of the early age of onset in GS (mean 2 years) children presenting with medulloblastoma, especially under 5 years, should be examined for signs of the syndrome. Those at high risk of developing multiple invasive basal cell carcinomata will then be identified.

Gorlin’s syndrome — Report of a case and management of cystic lesions

“…Other anomalies associated with this syndrome were published by Manfredi M in 2004. The age predilection for this condition is in the 1-3rd decade of life [14,6]. This supports the case reported here, which is in the first decade.…”

“…It is characterized by cutaneous basal cell carcinomas, multiple keratocysts in the jaw bones and skeletal anomalies [16]. It affects male and female equally and seen during the first, second and third decades of life [6,8]. Various studies have been proposed to study the genetic mechanism.…”

The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma

“…We have previously reported on the follow-up data from 173 consecutive cases of medulloblastoma occurring in the North Western Regional Health Authority area (population 4 001 000) of England (Evans et al, 1991a). Since that report, two further patients with Gorlin syndrome have been identified.…”

“…Affected individuals are at increased risk of developing a number of tumours, most notably multiple basal cell carcinomas (Gorlin, 1990;Evans et al, 1993). There are many reports of medulloblastoma occurring in the context of Gorlin syndrome, and we recently reported the incidence of this in a large population-based series (Evans et al, 1991a). The early age at onset of medulloblastoma in Gorlin syndrome and the more recent evidence that chromosome 9q is involved in at least a portion of medulloblastoma cases (Albrecht et al, 1994;Schofield et al, 1995) suggests that the Gorlin gene acts as a tumour suppressor.…”

Nevoid basal cell carcinoma (Gorlin) syndrome

“…6 Rahbari and Mehregan 7 noted that 2% of patients younger than 45 years of age with basal cell carcinomas have the syndrome. Evans et al 8,9 suggested that the minimal prevalence was 1 per 57,000. An almost identical value was noted by Pratt and Jackson.…”