J Breast Dis.  2018 Dec;6(2):79-83. 10.14449/jbd.2018.6.2.79.

Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome with PTEN Mutation: A Case Report

• Kwon SY
• Yeo SH
• Ha JS
• Kang SH

• KMID: 2434908
• DOI: http://doi.org/10.14449/jbd.2018.6.2.79

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.

Keyword

Breast neoplasms; Cowden syndrome; Mutation; PTEN gene

MeSH Terms

Breast Neoplasms*
Breast*
Chromosomes, Human, Pair 10
Extremities
Gastrointestinal Tract
Germ-Line Mutation
Hamartoma
Hamartoma Syndrome, Multiple*
Humans
Incidence
Keratosis
Thyroid Gland