Korean J Radiol.
2014 Oct;15(5):586-590. 10.3348/kjr.2014.15.5.586.
Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features
- Affiliations
-
- 1Department of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul 130-872, Korea.
- 2Department of Radiology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 110-744, Korea. river7774@gmail.com
- 3Department of Radiology, Chung-Ang University Hospital, Seoul 156-755, Korea.
- 4Department of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 110-744, Korea.
- KMID: 1734943
- DOI: http://doi.org/10.3348/kjr.2014.15.5.586
Abstract
- Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.
Keyword
MeSH Terms
-
Arteriovenous Malformations/radiography
Breast Neoplasms/*complications/*diagnosis/ultrasonography
DNA/analysis
DNA Mutational Analysis
Diagnosis, Differential
Female
Hamartoma Syndrome, Multiple/*complications/*diagnosis/genetics/ultrasonography
Humans
PTEN Phosphohydrolase/genetics
Thyroid Neoplasms/radiography
Tomography, X-Ray Computed
Young Adult
DNA
PTEN Phosphohydrolase
