Pediatric duodenal cancer and biallelic mismatch repair gene mutations.

Roy S, Raskin L, Raymond VM, Thibodeau SN, Mody RJ, Gruber SB
Pediatr Blood Cancer. 2009 53 (1): 116-20

PMID: 19283792 · DOI:10.1002/pbc.21957

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.

Copyright 2009 Wiley-Liss, Inc.

MeSH Terms (23)

Adaptor Proteins, Signal Transducing Adenocarcinoma Adenosine Triphosphatases Adolescent Antineoplastic Combined Chemotherapy Protocols Chemotherapy, Adjuvant Consanguinity DNA-Binding Proteins DNA Mismatch Repair DNA Repair Enzymes Duodenal Neoplasms Female Germ-Line Mutation Humans Lymphatic Metastasis Male Mismatch Repair Endonuclease PMS2 MutL Protein Homolog 1 MutS Homolog 2 Protein Nuclear Proteins Pancreatic Neoplasms Pedigree Radiotherapy, Adjuvant

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