Clinical and Laboratory ObservationSimultaneous Colonic Adenocarcinoma and Medulloblastoma in a 12-Year-Old with Biallelic Deletions in PMS2
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Discussion
The occurrence of brain tumors and colon carcinoma in a single patient is clinically designated as Turcot syndrome,1 also known as brain tumor polyposis syndrome.2, 3 Of two classic subtypes, type 1 Turcot is a subset of hereditary nonpolyposis colon cancer/Lynch syndrome4 and is associated with heterozygous germ line inactivating mutations in 1 of the 4 mismatch repair genes—MSH2, MLH1, MSH6, and PMS2. Inheritance is autosomal dominant and patients present in early adulthood. Type 2 Turcot
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W.M. is supported by a National Institutes of Health grant (1R21CA137485). The authors declare no conflicts of interest.
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