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Pediatric duodenal cancer and biallelic mismatch repair gene mutations
Author(s) -
Roy Sumita,
Raskin Leon,
Raymond Victoria M.,
Thibodeau Stephen N.,
Mody Rajen J.,
Gruber Stephen B.
Publication year - 2009
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21957
Subject(s) - pms2 , medicine , lynch syndrome , germline mutation , duodenal cancer , mutation , germline , medulloblastoma , cancer , adenocarcinoma , pediatric cancer , dna mismatch repair , gene , cancer research , genetics , oncology , colorectal cancer , biology
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. Pediatr Blood Cancer 2009;53:116–120. © 2009 Wiley‐Liss, Inc.