caa a22 4500 445331151 CHVBK 20180317142737.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s10689-011-9472-8 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9472-8 Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome? [Elektronische Daten] [Hugo Villeneuve, Steve Tremblay, Polymnia Galiatsatos, Nancy Hamel, Louis Guertin, Renald Morency, Marc Tischkowitz] 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. Springer Science+Business Media B.V., 2011 Cowden syndrome nationallicence Retromolar trigone nationallicence Acinar carcinoma nationallicence Villeneuve Hugo Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal, Montreal, QC, Canada aut Tremblay Steve Section of Stomatology (Oral Pathology), Faculty of Dentistry, Université Laval, Quebec, QC, Canada aut Galiatsatos Polymnia Division of Gastroenterology, Department of Medicine, Jewish General Hospital, Montreal, QC, Canada aut Hamel Nancy The Research Institute, McGill University Health Centre, Montreal, QC, Canada aut Guertin Louis Department of Ear, Nose and Throat Surgery, Centre hospitalier de l'Université de Montreal, Montreal, QC, Canada aut Morency Renald Département d'anatomo-pathologie, Hôpital Hotel-Dieu-de-Québec, Centre Hospitalier Universitaire du Québec (CHUQ), Quebec, QC, Canada aut Tischkowitz Marc Department of Human Genetics and Oncology, McGill Program in Cancer Genetics, McGill University, Montreal, QC, Canada aut Familial Cancer Springer Netherlands 10/4(2011-12-01), 691-694 1389-9600 10:4<691 2011 10 10689 https://doi.org/10.1007/s10689-011-9472-8 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9472-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Villeneuve Hugo Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Tremblay Steve Section of Stomatology (Oral Pathology), Faculty of Dentistry, Université Laval, Quebec, QC, Canada aut NATIONALLICENCE 700 1- Galiatsatos Polymnia Division of Gastroenterology, Department of Medicine, Jewish General Hospital, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Hamel Nancy The Research Institute, McGill University Health Centre, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Guertin Louis Department of Ear, Nose and Throat Surgery, Centre hospitalier de l'Université de Montreal, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Morency Renald Département d'anatomo-pathologie, Hôpital Hotel-Dieu-de-Québec, Centre Hospitalier Universitaire du Québec (CHUQ), Quebec, QC, Canada aut NATIONALLICENCE 700 1- Tischkowitz Marc Department of Human Genetics and Oncology, McGill Program in Cancer Genetics, McGill University, Montreal, QC, Canada aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/4(2011-12-01), 691-694 1389-9600 10:4<691 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer