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.
Original language | English (US) |
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Pages (from-to) | 409-412 |
Number of pages | 4 |
Journal | Pediatric Blood and Cancer |
Volume | 50 |
Issue number | 2 |
DOIs | |
State | Published - Feb 2008 |
Keywords
- Desmoid tumor
- Familial adenomatous polyposis
- Gardner's syndrome
- Pituitary adenoma
- Prolactinoma
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology