The Incidence of Gorlin Syndrome in 173 Consecutive Cases of Medulloblastoma

Overview

Journal Br J Cancer

Specialty Oncology

Date 1991 Nov 1

PMID 1931625

Citations 68

Authors

D G Evans

P A Farndon

L D Burnell

H R Gattamaneni

J M Birch

Affiliations

Soon will be listed here.

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.

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References

Cutler T, Holden C, Macdonald D . Multiple naevoid basal cell carcinoma syndrome (Gorlin's syndrome). Clin Exp Dermatol. 1979; 4(3):373-9. DOI: 10.1111/j.1365-2230.1979.tb02657.x. View

GORLIN R, Vickers R, Kellen E, Williamson J . MULTIPLE BASAL-CELL NEVI SYNDROME. AN ANALYSIS OF A SYNDROME CONSISTING OF MULTIPLE NEVOID BASAL-CELL CARCINOMA, JAW CYSTS, SKELETAL ANOMALIES, MEDULLOBLASTOMA, AND HYPORESPONSIVENESS TO PARATHORMONE. Cancer. 1965; 18:89-104. DOI: 10.1002/1097-0142(196501)18:1<89::aid-cncr2820180114>3.0.co;2-9. View

Chan G, Little J . Cultured diploid fibroblasts from patients with the nevoid basal cell carcinoma syndrome are hypersensitive to killing by ionizing radiation. Am J Pathol. 1983; 111(1):50-5. PMC: 1916205. View

Leppard B . Skin cysts in the basal cell naevus syndrome. Clin Exp Dermatol. 1983; 8(6):603-12. DOI: 10.1111/j.1365-2230.1983.tb01829.x. View

Kraemer B, Silva E, Sneige N . Fibrosarcoma of ovary. A new component in the nevoid basal-cell carcinoma syndrome. Am J Surg Pathol. 1984; 8(3):231-6. View

Potaznik D, Steinherz P . Multiple nevoid basal cell carcinoma syndrome and Hodgkin's disease. Cancer. 1984; 53(12):2713-5. DOI: 10.1002/1097-0142(19840615)53:12<2713::aid-cncr2820531226>3.0.co;2-z. View

BALSA R, Ingratta S, Galeano F, Raffaeli C, Drut R, Vestfrid M . [Basal cell nevus syndrome. Presentation of 2 cases. 1 associated with medulloblastoma]. Med Cutan Ibero Lat Am. 1985; 13(1):5-11. View

GORLIN R . Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). 1987; 66(2):98-113. DOI: 10.1097/00005792-198703000-00002. View

Woolgar J, Rippin J, Taylor M, BROWNE R . The basal cell naevus syndrome. Br J Hosp Med. 1987; 38(4):344-6, 350. View

10.

Anderson D, Cook W . Jaw cysts and the basal cell nevus syndrome. J Oral Surg. 1966; 24(1):15-26. View

11.

Telle B . [Multiple basalomas n a young man]. Dermatol Wochenschr. 1965; 151(51):1425-31. View

12.

Graham J, McJimsey B, Hardin Jr J . Nevoid basal cell carcinoma syndrome. Arch Otolaryngol. 1968; 87(1):72-7. DOI: 10.1001/archotol.1968.00760060074014. View

13.

Kennedy J, ABBOTT P . Nevoid basal-cell carcinoma syndrome. Report of two cases. Oral Surg Oral Med Oral Pathol. 1968; 26(3):406-14. DOI: 10.1016/0030-4220(68)90414-3. View

14.

Taylor W, Anderson D, Howell J, Thurston C . The nevoid basal cell carcinoma syndrome. Autopsy findings. Arch Dermatol. 1968; 98(6):612-4. View

15.

Neblett C, Waltz T, Anderson D . Neurological involvement in the nevoid basal cell carcinoma syndrome. J Neurosurg. 1971; 35(5):577-84. DOI: 10.3171/jns.1971.35.5.0577. View

16.

Jackson R, Gardere S . Nevoid basal cell carcinoma syndrome. Can Med Assoc J. 1971; 105(8):850 passim. PMC: 1931229. View

17.

Amin R . Basal cell naevus syndrome. Br J Radiol. 1975; 48(569):402-7. DOI: 10.1259/0007-1285-48-569-402. View

18.

Ramsden R, Barrett A . Gorlin's syndrome. J Laryngol Otol. 1975; 89(6):615-29. DOI: 10.1017/s0022215100080816. View

19.

Rayner C, Towers J, Wilson J . What is Gorlin's syndrome? The diagnosis and management of the basal cell naevus syndrome, based on a study of thirty-seven patients. Br J Plast Surg. 1977; 30(1):62-7. DOI: 10.1016/s0007-1226(77)90037-6. View

20.

Strong L . Genetic and environmental interactions. Cancer. 1977; 40(4 Suppl):1861-6. DOI: 10.1002/1097-0142(197710)40:4+<1861::aid-cncr2820400815>3.0.co;2-9. View