Clinical and Laboratory Observation
Simultaneous Colonic Adenocarcinoma and Medulloblastoma in a 12-Year-Old with Biallelic Deletions in PMS2

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We describe a 12-year-old girl, simultaneously presenting with colonic adenocarcinoma and medulloblastoma from bialleic deletions in the mismatch repair gene PMS2. Her distinctive physical and clinical findings are characteristic of constitutional mismatch repair deficiency syndrome. Earlier recognition of such findings may permit better screening and more effective treatment.

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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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