Gardner Syndrome with Extra and Intra-Abdominal Desmoid Tumors and Adrenal Involvement: PET/CT Findings

Abstract

Gardner syndrome, also known as familial colorectal polyposis, is an autosomal dominant disease and is part of the spectrum of familial adenomatous polyposis (FAP) syndromes. It is characterized by the presence of multiple polyps in the colon together with neoplasms outside the colon. Gardner syndrome is also associated with desmoid tumors in approximately 15% of affected individuals. Desmoid tumors are rare benign slow-growing neoplasms, arising from connective tissue (musculoaponeurotic fibrous tissue). Due to their locally aggressive nature, the term aggressive fibromatosis have been used to describe these tumors. Seven percent of patients with FAP or its variants may also have adrenal masses, most being benign and asymptomatic. We report the PET/CT of a 42 year old patient who was diagnosed with Gardner syndrome, demonstrating the rare coexistence of the intestinal polyps, extra and intra-abdominal desmoids and adrenal adenoma by PET/CT. In addition, the characteristic cutaneous lesions and osteomas of the skull were also identified.