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Prolactinoma as the first manifestation of Gardner's syndrome PEDIATRIC BLOOD & CANCER Goodin, G. S., McCarville, M. B., Thibodeau, S. N., Skapek, S. X., Khoury, J. D., Spunt, S. L. 2008; 50 (2): 409-412

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.

View details for DOI 10.1002/pbc.20985

View details for Web of Science ID 000252006000055

View details for PubMedID 16862550