Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features.
10.3348/kjr.2014.15.5.586
- Author:
Mirinae SEO
1
;
Nariya CHO
;
Hye Shin AHN
;
Hyeong Gon MOON
Author Information
1. Department of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul 130-872, Korea.
- Publication Type:Case Reports
- Keywords:
Cowden syndrome;
PTEN;
Breast cancer;
Ultrasonography, MRI
- MeSH:
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
- From:Korean Journal of Radiology
2014;15(5):586-590
- CountryRepublic of Korea
- Language:English
-
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.