title: Pediatric duodenal cancer and biallelic mismatch repair gene mutations.
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.
authors.affiliation: Division of Pediatric Hematology-Oncology, Dept. of Pediatrics, University of Michigan Health System, Ann Arbor, Michigan 48109-0238, USA. sumitar@med.umich.edu
authors.forename: Sumita
authors.initials: S
authors.lastname: Roy
authors.forename: Leon
authors.initials: L
authors.lastname: Raskin
authors.forename: Victoria M
authors.initials: VM
authors.lastname: Raymond
authors.forename: Stephen N
authors.initials: SN
authors.lastname: Thibodeau
authors.forename: Rajen J
authors.initials: RJ
authors.lastname: Mody
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Gruber
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000230:Adenocarcinoma / Q000235:genetics* / Q000556:secondary; D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D017024:Chemotherapy, Adjuvant; D003241:Consanguinity; D053843:DNA Mismatch Repair / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004379:Duodenal Neoplasms / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008207:Lymphatic Metastasis; D008297:Male; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000556:secondary; D010375:Pedigree; D018714:Radiotherapy, Adjuvant
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; C497172:MSH2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D045643:DNA Repair Enzymes