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

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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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Conflict of interest

The authors report no conflict of interest.

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Authors and Affiliations

  1. Department of Radiation Oncology, Centre hospitalier de l’Université de Montréal, Montreal, QC, Canada

    Hugo Villeneuve

  2. Section of Stomatology (Oral Pathology), Faculty of Dentistry, Université Laval, Quebec, QC, Canada

    Steve Tremblay

  3. Department of Oral and Maxillofacial Surgery, Centre hospitalier affilié, Hôpital de l’Enfant-Jésus, Quebec, QC, Canada

    Steve Tremblay

  4. Division of Gastroenterology, Department of Medicine, Jewish General Hospital, Montreal, QC, Canada

    Polymnia Galiatsatos

  5. The Research Institute, McGill University Health Centre, Montreal, QC, Canada

    Nancy Hamel

  6. Department of Human Genetics and Oncology, McGill Program in Cancer Genetics, McGill University, Montreal, QC, Canada

    Nancy Hamel & Marc Tischkowitz

  7. Department of Ear, Nose and Throat Surgery, Centre hospitalier de l’Université de Montreal, Montreal, QC, Canada

    Louis Guertin

  8. Département d’anatomo-pathologie, Hôpital Hotel-Dieu-de-Québec, Centre Hospitalier Universitaire du Québec (CHUQ), Quebec, QC, Canada

    Renald Morency

  9. Segal Cancer Centre, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada

    Marc Tischkowitz

  10. Department of Medical Genetics, University of Cambridge, Cambridge, UK

    Marc Tischkowitz

  11. Academic Laboratory of Medical Genetics, Level 6, Addenbrooke’s Treatment Centre, Addenbrooke’s Hospital, Cambridge, CB2 0QQ, UK

    Marc Tischkowitz

Authors
  1. Hugo Villeneuve
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  2. Steve Tremblay
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  3. Polymnia Galiatsatos
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  4. Nancy Hamel
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  5. Louis Guertin
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  6. Renald Morency
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  7. Marc Tischkowitz
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Corresponding author

Correspondence to Marc Tischkowitz.

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Villeneuve, H., Tremblay, S., Galiatsatos, P. et al. Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?. Familial Cancer 10, 691–694 (2011). https://doi.org/10.1007/s10689-011-9472-8

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  • DOI: https://doi.org/10.1007/s10689-011-9472-8

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