Introduction

Cowden syndrome (CS) is part of the PTEN hamartoma tumor syndrome, a group of disorders caused by a change (mutation) in the PTEN gene. Hamartomas are benign, meaning noncancerous, tumor-like growths. Other clinical syndromes that are part of the PTEN hamartoma tumor syndrome are Bannayan-Riley-Ruvalcaba syndrome (BRR; diagnosed in children), Proteus syndrome, and Proteus-like syndrome.

CS is characterized by a high risk of both benign and cancerous tumors of the breast, thyroid, endometrium (uterus), colorectal, kidney, and skin (melanoma).

Causes

Changes involving at least four genes, PTEN, SDHB, SDHD, and KLLN, have been identified in people with Cowden syndrome or Cowden-like syndrome.

Most cases of Cowden syndrome and a small percentage of cases of Cowden-like syndrome result from mutations in the PTEN gene. The protein produced from the PTEN gene is a tumor suppressor, which means that it normally prevents cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way.

Symptoms

Cowden syndrome is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. Approximately 99% of people who have Cowden syndrome will have benign growths on the skin and/or in the mouth by the end of their 20s. A majority of people with Cowden syndrome will also develop growths (called hamartomatous polyps) along the inner lining of the gastrointestinal tract.

How common is cowden syndrome?

CS is thought to be rare, although it is probably under-diagnosed. It is estimated that CS affects about 1 in every 200,000 individuals.

As testing for hereditary cancer expands to include multi-gene panels, the classical definition of syndromes such as CS may change. Some individuals may have a mutation in the PTEN gene but do not meet any of the criteria listed above for CS. It is not known if these people will have the same risks for developing cancer.

Diagnosis

The National Comprehensive Cancer Network [NCCN 2015] consensus clinical diagnostic criteria have been divided into three categories

Pathognomonic criteria (criteria that is characteristic for a particular disease): mucosal and skin lesions

Major criteria: breast cancer, macrocephaly, thyroid cancer and endometrial cancer

Minor criteria: thyroid lesions, intellectual disability, hamartomatous intestinal polyps, fibrocystic disease of the breast, lipomas, fibromas, genital and urinary tumors or malformations, uterine fibroids

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