Turcot-Despres syndrome (mismatch repair cancer syndrome, MMRCS, brain tumor-polyposis syndrome 1)

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

Specific

Turcot syndrome/APC mutation Turcot syndrome/MLH1 mutation Turcot syndrome/PMS2 mutation

General

hereditary colon cancer syndrome intestinal polyposis syndrome

Properties

ASSOCIATED-NEOPLASM[S]: polyp :SITE colon adenocarcinoma of the colon gastric cancer glioblastoma multiforme astrocytoma ependymoma medulloblastoma leukemia papillary thyroid carcinoma lipoma basal cell carcinoma