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.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Villeneuve H,Tremblay S,Galiatsatos P,Hamel N,Guertin L,Morency R,Tischkowitz Mdoi
10.1007/s10689-011-9472-8subject
Has Abstractpub_date
2011-12-01 00:00:00pages
691-4issue
4eissn
1389-9600issn
1573-7292journal_volume
10pub_type
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