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  • Title: Prolactinoma as the first manifestation of Gardner's syndrome.
    Author: Goodin GS, McCarville MB, Thibodeau SN, Skapek SX, Khoury JD, Spunt SL.
    Journal: Pediatr Blood Cancer; 2008 Feb; 50(2):409-12. PubMed ID: 16862550.
    Abstract:
    Familial adenomatous polyposis (FAP) is an inherited condition causing numerous adenomatous colorectal polyps and a markedly elevated risk of colon cancer. FAP may be associated with various extracolonic manifestations such as desmoid fibromatosis and osteomas (termed Gardner's syndrome) and brain tumors, usually medulloblastoma or glioma [termed Brain Tumor Polyposis (BTP) syndrome type 2]. We describe a pediatric patient who initially presented with prolactinoma and later was found to have Gardner's syndrome. A germline mutation of the APC (adenomatous polyposis coli) gene was identified. Our case illustrates the association between prolactinoma and FAP, which may represent a rare subtype of Gardner's and BTP syndromes.
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