Prolactinoma as the first manifestation of Gardner's syndrome

Geoffrey S. Goodin, M. Beth McCarville, Stephen N. Thibodeau, Stephen X. Skapek, Joseph D. Khoury, Sheri L. Spunt

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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 languageEnglish (US)
Pages (from-to)409-412
Number of pages4
JournalPediatric Blood and Cancer
Issue number2
StatePublished - Feb 2008
Externally publishedYes


  • Desmoid tumor
  • Familial adenomatous polyposis
  • Gardner's syndrome
  • Pituitary adenoma
  • Prolactinoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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