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

Inga Melbarde-Gorkuša; Arvids Irmejs; Dace Berziņa; Ilze Štrumfa; Arnis Aboliņš; Andris Gardovskis; Signe Subatniece; Genadijs Trofimovičs; Janis Gardovskis; Edvins Miklaševičs

doi:10.1186/1897-4287-10-5

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

Inga Melbarde-Gorkuša, Arvids Irmejs, Dace Berziņa, Ilze Štrumfa, Arnis Aboliņš, Andris Gardovskis, Signe Subatniece, Genadijs Trofimovičs, Janis Gardovskis, Edvins Miklaševičs

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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.

Original language	English
Article number	5
Journal	Hereditary cancer in clinical practice
Volume	10
Issue number	1
DOIs	https://doi.org/10.1186/1897-4287-10-5 https://doi.org/10.1186/1897-4287-10-5
Publication status	Published - 14 Apr 2012

Keywords*

Cancer
Cowden syndrome
PTEN
Risk-reducing mastectomy

Field of Science*

3.1 Basic medicine
3.2 Clinical medicine

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Melbarde-Gorkuša, I., Irmejs, A., Berziņa, D., Štrumfa, I., Aboliņš, A., Gardovskis, A., Subatniece, S., Trofimovičs, G., Gardovskis, J., & Miklaševičs, E. (2012). Challenges in the management of a patient with Cowden syndrome: Case report and literature review. Hereditary cancer in clinical practice, 10(1), Article 5. https://doi.org/10.1186/1897-4287-10-5, https://doi.org/10.1186/1897-4287-10-5

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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.",

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Melbarde-Gorkuša, I, Irmejs, A, Berziņa, D, Štrumfa, I, Aboliņš, A, Gardovskis, A , Subatniece, S , Trofimovičs, G , Gardovskis, J & Miklaševičs, E 2012, 'Challenges in the management of a patient with Cowden syndrome: Case report and literature review', Hereditary cancer in clinical practice, vol. 10, no. 1, 5. https://doi.org/10.1186/1897-4287-10-5, https://doi.org/10.1186/1897-4287-10-5

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AU - Melbarde-Gorkuša, Inga

AU - Irmejs, Arvids

AU - Berziņa, Dace

AU - Štrumfa, Ilze

AU - Aboliņš, Arnis

AU - Gardovskis, Andris

AU - Subatniece, Signe

AU - Trofimovičs, Genadijs

AU - Gardovskis, Janis

AU - Miklaševičs, Edvins

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Y1 - 2012/4/14

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

Abstract

Keywords*

Field of Science*

Publication Type*

UN SDGs

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