| Theme |
Polyposis of the colon and rectum, and other related conditions : hereditary colorectal cancer |
| Title |
Cowden syndrome |
| Author |
Emiko Takeshita |
Department of Surgical Oncology, Tokyo Medical and Dental University Graduate School / Division of Colorectal Surgery, International Medical Center of Japan |
| Author |
Tetsuro Higuchi |
Department of Surgical Oncology, Tokyo Medical and Dental University Graduate School |
| Author |
Masayuki Enomoto |
Department of Surgical Oncology, Tokyo Medical and Dental University Graduate School |
| Author |
Kenichi Sugihara |
Department of Surgical Oncology, Tokyo Medical and Dental University Graduate School |
| [ Summary ] |
Cowden syndrome, also known as multiple hamartoma syndrome, is a complex disorder with malignant and benign (hamartomatous) lesions affecting derivatives of all three germ cell layers. Cowden syndrome is characterized by mucocutaneous findings and multiple hamartomatous lesions in a variety of tissues including the breast, thyroid, gastrointestinal tract, endometrium, and brain. It has been estimated to affect about 1 in 200,000 individuals, although this is probably underestimated due to difficulties in its diagnosis. The lifetime risk for malignant disease is relatively high. Cowden syndrome is an autosomal dominantly inherited disease. Germline mutations in PTEN are associated with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are together referred to as PTEN hamartoma tumor syndrome. The key for management of Cowden syndrome is primarily focused on cancer risks. |