Colon
Syndromes
Turcot syndrome
Author: Jennifer Findeis-Hosey, M.D.
Editorial Board Member: Raul S. Gonzalez, M.D.
Last author update: 1 March 2016
Last staff update: 22 December 2021
Copyright: 2002-2024, PathologyOutlines.com, Inc.
PubMed Search: Turcot's syndrome [title]
Table of Contents
Definition / general | Essential features | Terminology | Clinical features | Case reports | Differential diagnosis | Additional referencesCite this page: Findeis-Hosey J. Turcot syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colontumorturcot.html. Accessed December 26th, 2024.
Definition / general
- Variant familial polyposis syndrome characterized by either Familial Adenomatous Polyposis (FAP) or Lynch Syndrome (LS), along with central nervous system tumors (N Engl J Med 1995;332:839)
Essential features
- Turcot syndrome encompasses either:
- Patients with an APC mutation: FAP+ usually medulloblastoma
- Patients with a mismatch repair gene mutation: Lynch Syndrome + usually glioblastoma multiforme
Terminology
- Pronounced with silent second t (Turcot was French Canadian)
Clinical features
- Same as FAP or Lynch Syndrome, but additionally with central nervous system tumor (as above)
Case reports
- 11 year old boy with colonic adenocarcinoma and glioblastoma multiforme (Case Rep Oncol Med 2012;2012:720273)
- 49 year old man with colon carcinoma and astrocytoma (Neurol Med Chir (Tokyo) 2004;44:124)
Differential diagnosis
- Constitutional mismatch repair deficiency syndrome: biallelic mismatch repair gene mutation; patients develop brain tumors, hematopoietic malignancies and Lynch syndrome associated tumors (Haematologica 2010;95:699)
Additional references
- OMIM: Mismatch Repair Cancer Syndrome (scroll down for information on Turcot)
