A Novel APC Gene Mutation Associated With a Severe Phenotype in a Patient With Turcot Syndrome.

Summary

Turcot syndrome is a rare inherited condition of colonic polyposis associated with central nervous system tumors. Multiple tumors may be seen in patients with Turcot syndrome but the occurrence of sarcomas is rare. This case highlights the importance of close follow-up for patients with Turcot syndrome and the importance of a broad differential diagnosis in evaluating a condition in which multiple tumors are frequently seen.