title: Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.
abstract: Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. The oral and maxillofacial manifestations of these syndromes may become visible several years before the intestinal lesions, constituting a clinical marker that is predictive for the development of intestinal polyps and/or other visceral malignancies. A multidisciplinary approach is therefore necessary for both clinical diagnosis and management of the gene-carriers probands and their family members who have to be referred for genetic testing or have to be investigated for the presence of visceral cancers.
authors: Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, Italy.
authors: Giovanni
authors: G
authors: Ponti
authors: Department of Diagnostic and Clinical Medicine and Public Health, University of Modena and Reggio Emilia, Italy.
authors: Aldo
authors: A
authors: Tomasi
authors: Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, Italy.
authors: Marco
authors: M
authors: Manfredini
authors: Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, Italy.
authors: Giovanni
authors: G
authors: Pellacani
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D005736:Gardner Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000628:therapy; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D058990:Molecular Targeted Therapy; D009061:Mouth Mucosa / Q000378:metabolism / Q000473:pathology*; D055653:Muir-Torre Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000628:therapy; D009377:Multiple Endocrine Neoplasia / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000628:therapy; D010580:Peutz-Jeghers Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000628:therapy; D010641:Phenotype
keywords: Ameloblastoma; Cowden syndrome; Familial Adenomatous Polyposis (FAP); Fordyce granules; Gardner syndrome; Gorlin syndrome; Lynch/Muir–Torre syndrome; Multiple endocrine neoplasia; Odontogenic keratocystic tumors; Peutz–Jeghers syndrome