Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome with PTEN Mutation: A Case Report
- Author(s)
- Sun Young Kwon; Soo Hyun Yeo; Jung Sook Ha; Sun Hee Kang
- Keimyung Author(s)
- Kwon, Sun Young; Yeo, Soo Hyun; Ha, Jung Sook; Kang, Sun Hee
- Department
- Dept. of Pathology (병리학)
Dept. of Radiology (영상의학)
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Surgery (외과학)
- Journal Title
- Journal of Breast Disease
- Issued Date
- 2018
- Volume
- 6
- Issue
- 2
- Keyword
- Breast neoplasms; Cowden syndrome; Mutation; PTEN gene
- Abstract
- Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped on chromosome 10. The clinical features of CS are variable, primarily presenting as mucocutaneous lesions (99%). A mucocutaneous lesion, such as trichilemmoma of the face or keratosis of the extremities, is an important diagnostic marker for CS. CS has been reported to increase the incidence of benign and malignant neoplasms in the breast, thyroid, and gastrointestinal tract. The risk of developing malignancy in individuals with CS is up to 10 times higher than general population throughout an entire life time.
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