Etiology and Pathogenesis > Hereditary Tumor Syndromes

Abstract

Polyposis coli, craniofacial exostosis and astrocytoma: the concomitant occurrence of the Gardner's and Turcot syndromes

Koot RW, Hulsebos TJ, van Overbeeke JJ

Department of Neurosurgery, Academic Medical Centre, University of Amsterdam, The Netherlands

Background. Up to 60% of the patients with known adenomatous polyposis coli may present hyperostosis of the skull and facial bones, and/or a susceptibility to fibromas. 
This is known as the Gardner's syndrome, and is considered as an allelic variant of familial adenomatous polyposis (FAP). 
Also, although very rare, an adenomatous polyposis coli may occur with malignant tumors of the central nervous system, known as Turcot syndrome. 
If both syndromes are different phenotypic presentation of FAP, this would explain a simultaneous occurrence. 

Method. We report the history of a patient who showed clinical signs of the simultaneous occurrence of both Gardner's and Turcot syndromes. 
The syndromes are compared, and in view of the literature, a genetic explanation for the concomitant occurrence is discussed. 

Results. Evidence obtained from the literature to consider Turcot syndrome as a phenotype of FAB is as follows: 
(1) The occurrence of Gardner's and Turcot syndromes in one family, but in different members; 
(2) The presence of congenital hypertrophic retinal pigmented epithelium (CHRPE), which correlates with the expression of polyps in FAP patients, in both syndromes; 
(3) Linkage of the Turcot phenotype to the adenomatous polyposis coli locus by genetic markers. 
Evidence obtained from this case report indicates that there is a manifestation of both syndromes in one patient together with a positive family history for FAP.

Conclusion. This concomitant occurrence of both Gardner's and Turcot syndromes in one patient clinically supports genetic and ophthalmic investigation to consider Turcot syndrome (like Gardner's syndrome) as a phenotypic variant of FAP. 
Patients with FAP should be examined for the presence of Gardner's syndrome. 
In case a Gardner's syndrome is suspected, a computed tomography scan of the brain is recommended because of the possible existence of a simultaneous Turcot syndrome.

PMID: 8638216 [PubMed - indexed for MEDLINE]