Journal of Breast Disease 2018;6(2):79-83

doi:10.14449/jbd.2018.6.2.79

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

Sun Young KWON 1 ; Soo Hyun YEO ; Jung Sook HA ; Sun Hee KANG

Affiliations

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Keywords

Breast neoplasms; Cowden syndrome; Mutation; PTEN gene

Country

Republic of Korea

Language

English

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.