Gastrointestinal malignancies are extremely rare in the pediatric population, and duodenal cancers represent an even more unusual entity. Intestinal cancers in young adults and children have been observed to be associated with functional deficiencies of the mismatch repair (MMR) system causing a cancer-predisposition syndrome. We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T] ) of the PMS2 gene.
- Children and young adults
- Duodenal adenocarcinoma
- Mismatch repair
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health