title: Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation.
abstract: Sebaceous carcinoma of parotid gland are extremely rare with only 29 cases reported so far. The development of parotid sebaceous carcinoma in association with mutation in the mismatch repair gene that causes Muir Torre Syndrome (MTS), a subset of Lynch Syndrome, is still unclear. This study describes such a case and reviews the literature to see if an association between parotid sebaceous carcinoma and multiple visceral malignancies seen in Lynch Syndrome has ever been described. MTS represents a small subset of the Hereditary Non Polyposis Colorectal Carcinoma family, thought to be a subtype of Lynch Syndrome, where patients are prone to develop multiple visceral cancers involving gastrointestinal and genitourinary tract along with sebaceous and non-sebaceous tumours of the skin. MTS is a rare hereditary, autosomal dominant cancer syndrome caused by Microsatellite Instability and defect in DNA mismatch repair protein. The germline mutation involves mostly hMSH2 and hMLH1 genes. In MTS the skin of the head and neck area with the periocular region in particular, is affected but sebaceous carcinomas of the parotid associated with visceral malignancies has not yet been reported in literature. Here we report an index case of sebaceous carcinoma of parotid gland in a patient with MTS.
authors.affiliation: Department of Histopathology, Royal Surrey County Hospital, Egerton Road, Guildford, GU2 8DY, UK. vishwas.neelakantan@gmail.com.
authors.forename: Iyer Vishwas
authors.identifier: http://orcid.org/0000-0002-6499-0002
authors.initials: IV
authors.lastname: Neelakantan
authors.affiliation: Department of Histopathology, Royal Surrey County Hospital, Egerton Road, Guildford, GU2 8DY, UK.
authors.forename: Silvana
authors.initials: S
authors.lastname: Di Palma
authors.affiliation: Department of Histopathology, Frimley Park Hospital, Camberley, Surrey, UK.
authors.forename: C E T
authors.initials: CE
authors.lastname: Smith
authors.affiliation: Department of ENT, Frimley Park Hospital, Camberley, Surrey, UK.
authors.forename: A
authors.initials: A
authors.lastname: McCoombe
mesh_terms: D018266:Adenocarcinoma, Sebaceous / Q000473:pathology*; D000368:Aged; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D055653:Muir-Torre Syndrome / Q000235:genetics / Q000473:pathology*; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D010307:Parotid Neoplasms / Q000473:pathology*; D012626:Sebaceous Gland Neoplasms / Q000473:pathology*
chemical_list: C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein
keywords: Microsatellite instability; Muir Torre and Lynch syndrome; Parotid gland; Sebaceous carcinoma