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Updated: Jun 24, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Pediatric duodenal cancer and biallelic mismatch repair gene mutations
Sumita Roy1, Leon Raskin, Victoria M Raymond
1Division of Pediatric Hematology-Oncology, Dept. of Pediatrics, University of Michigan Health System, Ann Arbor, Michigan 48109-0238, USA. sumitar@med.umich.edu
Abstract:
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.
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