Prolactinoma as the first manifestation of Gardner's syndrome

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.

Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations

“…70 Other CNS neoplasms found less commonly in association with FAP include ependymomas and pituitary adenomas. 67,71 Microscopy.-Four histologic variants of medulloblastoma, including medulloblastoma with extensive nodularity, desmoplastic nodular, anaplastic, and large cell, are globally accepted. Medulloblastoma is considered a small round blue cell tumor ( Figure 10, A and B) with densely packed areas of mitotically active, basophilic cells with a high nuclear to cytoplasmic ratio ( Figure 10, A and B).…”