Open Access Case report

Challenges in the management of a patient with Cowden syndrome: case report and literature review

Inga Melbārde-Gorkuša1*, Arvīds Irmejs12, Dace Bērziņa1, Ilze Štrumfa1, Arnis Āboliņš1, Andris Gardovskis1, Signe Subatniece1, Genādijs Trofimovičs1, Jānis Gardovskis1 and Edvīns Miklaševičs1

Author Affiliations

1 Hereditary Cancer Institute, Rīga Stradiņš University, Dzirciema Street 16, LV-1007 Riga, Latvia

2 Breast Unit, Pauls Stradins Clinical University Hospital, Pilsonu Street 13, LV-1002 Riga, Latvia

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Hereditary Cancer in Clinical Practice 2012, 10:5  doi:10.1186/1897-4287-10-5

Published: 14 April 2012

Abstract

We would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. According to the latest literature data, the lifetime risk of breast cancer for Cowden syndrome patients is 81% and surgery is a justified option to reduce the risk of breast cancer. Bilateral risk-reducing mastectomy with immediate reconstruction was performed to eliminate further risk of breast cancer. 3 years after the risk-reducing breast surgery the patient is satisfied with the outcome. This is to our best knowledge the first reported Cowden syndrome case with follow-up data after risk-reducing measures have been taken.

Keywords:
Cowden syndrome; PTEN; Cancer; Risk-reducing mastectomy