Congenital hypertrophy of the retinal pigment epithelium and mandibular osteomata as markers in familial colorectal cancer

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) and multiple mandibular osteomata are markers of familial adenomatous polyposis (FAP). We have assessed their prevalence in non-polyposis familial colorectal neoplasia. Multiple mandibular osteomata were present in 1/29 (3%) patients w...

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Published in:British journal of cancer 1994-07, Vol.70 (1), p.173-176
Main Authors: HUNT, L. M, ROBINSON, M. H. E, HUGKULSTONE, C. E, CLARKE, B, VERNON, S. A, GREGSON, R. H. S, HARDCASTLE, J. D, ARMITAGE
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
Colorectal Neoplasms - complications
Colorectal Neoplasms, Hereditary Nonpolyposis - complications
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
Female
Gastroenterology. Liver. Pancreas. Abdomen
Genetic Markers
Humans
Hypertrophy - congenital
Hypertrophy - etiology
Incidence
Male
Mandibular Neoplasms - etiology
Medical sciences
Middle Aged
Osteoma - etiology
Pigment Epithelium of Eye - pathology
Retinal Diseases - congenital
Retinal Diseases - etiology
Retinal Diseases - genetics
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
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Summary:Congenital hypertrophy of the retinal pigment epithelium (CHRPE) and multiple mandibular osteomata are markers of familial adenomatous polyposis (FAP). We have assessed their prevalence in non-polyposis familial colorectal neoplasia. Multiple mandibular osteomata were present in 1/29 (3%) patients with familial colorectal neoplasia. CHRPE was present in 11/33 (33%) patients with familial colorectal neoplasia compared with 3/36 (8%) with sporadic disease (P = 0.01) and 4/32 (12.5%) control subjects (P = 0.04). Seven patients with familial colorectal neoplasia had multiple areas of CHRPE compared with one with sporadic disease (P = 0.02) and one control subject (P = 0.02). There was no obvious correlation between calculated familial colorectal cancer risk and the presence of multiple areas of CHRPE. A proportion of patients with familial colorectal cancer have a marker found in FAP and may therefore have a constitutional genetic defect, at least in part responsible for their cancer, making them an interesting group for genetic study. Ophthalmoscopy may contribute to risk assessment in familial colorectal cancer.
ISSN:0007-0920
1532-1827
DOI:10.1038/bjc.1994.271