Challenges in the management of a patient with Cowden syndrome: case report and literature review
<p>Abstract</p> <p>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 syn...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-04-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | http://www.hccpjournal.com/content/10/1/5 |
| _version_ | 1811247345255317504 |
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| author | Melbārde-Gorkuša Inga Irmejs Arvīds Bērziņa Dace Štrumfa Ilze Āboliņš Arnis Gardovskis Andris Subatniece Signe Trofimovičs Genādijs Gardovskis Jānis Miklaševičs Edvīns |
| author_facet | Melbārde-Gorkuša Inga Irmejs Arvīds Bērziņa Dace Štrumfa Ilze Āboliņš Arnis Gardovskis Andris Subatniece Signe Trofimovičs Genādijs Gardovskis Jānis Miklaševičs Edvīns |
| author_sort | Melbārde-Gorkuša Inga |
| collection | DOAJ |
| description | <p>Abstract</p> <p>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 <it>PTEN </it>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.</p> |
| first_indexed | 2024-04-12T15:07:13Z |
| format | Article |
| id | doaj.art-09b798300aed42b5ba6a36d30d61fecd |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-04-12T15:07:13Z |
| publishDate | 2012-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-09b798300aed42b5ba6a36d30d61fecd2022-12-22T03:27:53ZengBMCHereditary Cancer in Clinical Practice1897-42872012-04-01101510.1186/1897-4287-10-5Challenges in the management of a patient with Cowden syndrome: case report and literature reviewMelbārde-Gorkuša IngaIrmejs ArvīdsBērziņa DaceŠtrumfa IlzeĀboliņš ArnisGardovskis AndrisSubatniece SigneTrofimovičs GenādijsGardovskis JānisMiklaševičs Edvīns<p>Abstract</p> <p>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 <it>PTEN </it>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.</p>http://www.hccpjournal.com/content/10/1/5Cowden syndromePTENCancerRisk-reducing mastectomy |
| spellingShingle | Melbārde-Gorkuša Inga Irmejs Arvīds Bērziņa Dace Štrumfa Ilze Āboliņš Arnis Gardovskis Andris Subatniece Signe Trofimovičs Genādijs Gardovskis Jānis Miklaševičs Edvīns Challenges in the management of a patient with Cowden syndrome: case report and literature review Hereditary Cancer in Clinical Practice Cowden syndrome PTEN Cancer Risk-reducing mastectomy |
| title | Challenges in the management of a patient with Cowden syndrome: case report and literature review |
| title_full | Challenges in the management of a patient with Cowden syndrome: case report and literature review |
| title_fullStr | Challenges in the management of a patient with Cowden syndrome: case report and literature review |
| title_full_unstemmed | Challenges in the management of a patient with Cowden syndrome: case report and literature review |
| title_short | Challenges in the management of a patient with Cowden syndrome: case report and literature review |
| title_sort | challenges in the management of a patient with cowden syndrome case report and literature review |
| topic | Cowden syndrome PTEN Cancer Risk-reducing mastectomy |
| url | http://www.hccpjournal.com/content/10/1/5 |
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