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Gardner’s syndrome presenting as duodenal carcinoma in a young male

Journal: Journal of Clinical and Scientific Research (Vol.4, No. 4)

Publication Date:

Authors : ; ; ; ; ;

Page : 296-300

Keywords : Adenomatous polyposis; Gardner syndrome; Adenomatous polyposis coli gene; Duodenal neoplasm;

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Gardners syndrome (GS) is a variant of familial adenomatous polyposis (FAP) and presents with both colonic and extra colonic manifestations. It is an autosomal dominant disorder and results from mutations in adenomatous polyposis coli (APC) gene. Patients with GS if not treated early will invariably develop colonic cancers at a much younger age than those with sporadic colonic carcinoma. These patients also develop other malignant tumours like duodenal cancers, gastric cancer, hepatoblastoma, papillary carcinoma of the thyroid and multifocal cholangiocarcinomas. With early diagnosis and treatment of colonic polyposis, adenocarcinoma of the duodenum has become the leading cause of death in FAP patients. The mean age at which duodenal carcinoma is diagnosed in FAP is 45-52 years. We report the rare occurrence of duodenal carcinoma as the presenting feature of Gardner’s syndrome in a young 25-year-old male with no obvious malignant changes in the colonic adenomas.

Last modified: 2016-02-20 15:38:41