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

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...

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Published inJournal of Clinical and Scientific Research Vol. 4; no. 4; pp. 296 - 300
Main Authors Sarma, YS, Bhaskararao, G, Sriharibabu, M, Nayak, SamirRanjan, Satyaprakash, T
Format Journal Article
LanguageEnglish
Published Wolters Kluwer Medknow Publications 01.10.2015
Subjects
Adenomatous polyposis
Adenomatous polyposis coli gene
Duodenal neoplasm
Gardner syndrome
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Summary: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.
ISSN:2277-5706
2277-8357
DOI:10.15380/2277-5706.JCSR.14.029