A Case of Cowden Syndrome Associated with Breast Cancer and Thyroid Cancer / 대한소화기내시경학회지

ABSTRACT

Cowden syndrome, which is also known as 'multiple hamartoma syndrome', is an autosomal dominant condition with variable expression resulting from a mutation in the PTEN gene on the chromosome arm, 10q23. Cowden syndrome causes hamartomatous neoplasms of the skin and mucosa, breast, thyroid, and gastrointestinal tract, and is associated with the development of several types of malignancy. In particular, a marked increase in the incidence of breast carcinoma in women and of thyroid carcinoma in both men and women has been reported. We report a case of Cowden syndrome associated with both carcinomas with a review of the relevant literature.