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

doi:10.1002/pbc.21957

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

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

9 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 language	English (US)
Pages (from-to)	116-120
Number of pages	5
Journal	Pediatric Blood and Cancer
Volume	53
Issue number	1
DOIs	https://doi.org/10.1002/pbc.21957
State	Published - 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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10.1002/pbc.21957

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AU - Roy, Sumita

AU - Raskin, Leon

AU - Raymond, Victoria M.

AU - Thibodeau, Stephen N.

AU - Mody, Rajen J.

AU - Gruber, Stephen B.

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AB - 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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KW - Duodenal adenocarcinoma

KW - Mismatch repair

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Pediatric duodenal cancer and biallelic mismatch repair gene mutations

Abstract

Keywords

ASJC Scopus subject areas

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