Turcot-Despres syndrome (mismatch repair cancer syndrome, MMRCS, brain tumor-polyposis syndrome 1)
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Genetics
- autosomal dominant
- associated with mutations in adenomatous polyposis coli (APC) gene or in the mismatch repair genes MLH1 or PMS2
Clinical manifestations
- malignant tumors of the brain (gliomas) associated with multiple colorectal adenomas
- skin features include sebaceous cysts, hyperpigmentation & cafe au lait spots
Complications
- risk of colon cancer not known
Management
- no screening for colon cancer recommended
More general terms
More specific terms
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 309
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11. American College of Physicians, Philadelphia 1998
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 573