Disease relevance of Gardner Syndrome

• Skin fibroblasts from patients with Gardner syndrome (GS), those with familial polyposis coli (FPC), and spouse or unrelated controls were karyotyped and tested for various growth properties including susceptibility to transformation by viral or chemical agents [1].
• On the basis of the patient's history of multiple dermal fibromas, a cranial osteoma, familial adenomatous polyposis (FAP), a total abdominal colectomy, and an adenoma of the ampulla of Vater, we diagnosed the patients condition as Gardner syndrome [2].
• Familial adenomatous polyposis (FAP) and Gardner syndrome (GS) are rare dominantly inherited syndromes characterized by hundreds to thousands of colonic adenomatous polyps [3].
• Nuchal-type fibroma (NTF ) is a paucicellular, CD34-positive fibrous tumor with fat entrapment, which may occur in both nuchal and extranuchal locations and in association with Gardner syndrome [4].
• Familial nonmedullary thyroid cancer occurs as a discrete entity or as part of other family cancer syndromes such as Gardner syndrome, Cowden disease, and other rare syndromes [5].

High impact information on Gardner Syndrome

• These results suggest that the severity of some of the features of Gardner syndrome may correlate with genotype in FAP [6].
• Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome [7].
• RESULTS: Novel disease-causing germline mutations, all of which resulted in truncation of the APC protein, were identified in 6 of the 7 patients with FAP or Gardner syndrome [7].
• The current literature and previously reported cases of hepatocellular carcinoma in patients with Gardner syndrome or familial adenomatous polyposis are reviewed [8].
• This is the first patient reported with fibrolamellar hepatocellular carcinoma associated with Gardner syndrome [8].

Chemical compound and disease context of Gardner Syndrome

• We report here than skin fibroblasts (SF) from patients with hereditary adenomatosis of the colon and rectum (ACR) and its Gardner syndrome (GS) variant are abnormally resistant to retinoic acid (RA) [9].

Gene context of Gardner Syndrome

• RESULTS: In patient 1, the diagnosis of fibrolamellar hepatocellular carcinoma preceded the diagnosis of Gardner syndrome by almost 2 years [8].
• The patient presented the original triad of lesions of the Gardner syndrome [10].
• Examples include the specific pattern of hypodontia seen before the development of iris dysplasia in Rieger syndrome, and the presence of supernumerary teeth and facial osteomas preceding malignant transformation of intestinal polyps in Gardner syndrome [11].

Analytical, diagnostic and therapeutic context of Gardner Syndrome

• Desmoid growth should be considered in the differential diagnosis of a pancreatic cystic mass lesion in patients with FAP or its Gardner syndrome variant [12].

References