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01-12-2011

Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?

Authors: Hugo Villeneuve, Steve Tremblay, Polymnia Galiatsatos, Nancy Hamel, Louis Guertin, Renald Morency, Marc Tischkowitz

Published in: Familial Cancer | Issue 4/2011

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.

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Title: Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?
Authors: Hugo Villeneuve
Steve Tremblay
Polymnia Galiatsatos
Nancy Hamel
Louis Guertin
Renald Morency
Marc Tischkowitz
Publication date: 01-12-2011
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 4/2011
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-011-9472-8

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