Pediatric duodenal cancer and biallelic mismatch repair gene mutations

Sumita Roy, Leon Raskin, Victoria M. Raymond, Stephen N. Thibodeau, Rajen J. Mody, Stephen B. Gruber

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)116-120
Number of pages5
JournalPediatric Blood and Cancer
Volume53
Issue number1
DOIs
StatePublished - Jul 15 2009

Keywords

  • Biallelic
  • Children and young adults
  • Duodenal adenocarcinoma
  • Mismatch repair

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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