title: Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?
abstract: Cowden syndrome (CS) is a cancer predisposition syndrome caused by germline mutations in the PTEN tumor suppressor gene. It is associated with an increased risk of thyroid, breast and endometrial cancer but many manifestations can be found in the head and neck region, some of which are pathognomonic. Here we report a 35-year-old male referred by his dentist for evaluation of a lesion located near the retromolar trigone. Comprehensive clinical examination revealed papillomatous skin lesions, macrocephaly and gingival hypertrophy. Histopathological examination of the lesion showed an acinic cell carcinoma (ACC) of minor salivary gland origin. Analysis of the PTEN gene identified a germline R130Q mutation in exon 5, confirming the diagnosis of CS, but no loss of heterozygosity was seen in DNA extracted from tumor tissue. This is to our knowledge the first case describing an association of ACC of the minor salivary gland with a PTEN-gene related disorder. It emphasizes the importance of head and neck examination in these patients.
authors.affiliation: Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal, Montreal, QC, Canada.
authors.forename: Hugo
authors.initials: H
authors.lastname: Villeneuve
authors.forename: Steve
authors.initials: S
authors.lastname: Tremblay
authors.forename: Polymnia
authors.initials: P
authors.lastname: Galiatsatos
authors.forename: Nancy
authors.initials: N
authors.lastname: Hamel
authors.forename: Louis
authors.initials: L
authors.lastname: Guertin
authors.forename: Renald
authors.initials: R
authors.lastname: Morency
authors.forename: Marc
authors.initials: M
authors.lastname: Tischkowitz
mesh_terms: D000328:Adult; D018267:Carcinoma, Acinar Cell / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D017354:Point Mutation; D012468:Salivary Gland Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human