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Cowden syndrome is a rare genetic disorder that causes non-malignant growths called hamartomas to form in various parts of the body, increasing the risk of certain types of cancer. It is caused by a mutation in the PTEN gene, which leads to uncontrollable cell division. The syndrome is not curable, but regular screening can detect cancer early. The most common complications are breast, thyroid, colon, lung, uterus, bladder, and bone cancer.
Cowden syndrome is a genetically inherited disorder that causes growths called hamartomas to form. Hamartomas are similar to tumors in some respects but are not malignant; however, the syndrome increases the risk of some types of cancer. Cowden syndrome is also known as Cowden disease or multiple hamartoma syndrome.
Most cases of Cowden syndrome develop due to a mutation in a tumor suppressor gene called tension homolog phosphatase, or PTEN. Tumor suppressor genes are those that can lead to the development of cancer when they undergo a mutation. Mutations in PTEN cause cancer because the gene is involved in the cell division cycle. When PTEN is mutated, the cell divides uncontrollably and can give rise to cancer. A PTEN mutation therefore favors the formation of hamartomas and, at the same time, causes an increased risk of cancer.
Hamartomas can form in a variety of locations in the body. Possible sites of hamartoma development include the skin; mucous surfaces such as the nasal passages, urogenital system, and gastrointestinal tract; skeleton; and central nervous system. Cutaneous hamartomas develop in almost all cases. The risk of thyroid cancer is markedly increased in people with this disease, and the risk of breast cancer is markedly increased in women.
Cowden syndrome is a rare disease with an approximate prevalence of one case in 200,000 people. This figure is a rough estimate, however, because the disease is not easily diagnosed. In most cases, the diagnosis occurs after one or more hamartomas have developed on the body; this can occur at any time and at any stage of life.
This condition is not curable, as it is caused by an inherited cell mutation that cannot be prevented. Treatment of Cowden syndrome involves regular screening for developing cancers that the individual with the disease is susceptible to. After being diagnosed, an individual will typically undergo a thorough physical exam to establish a baseline for the disease. At regular intervals, you will be re-tested for cancer or cell changes that could lead to cancer. Tests are done on an annual basis and include diagnostic imaging tests such as MRIs and CT scans, as well as blood tests and other laboratory tests.
Cancer is the most common possible complication of the syndrome. One or more types can develop, including cancer of the breast, thyroid, colon, lung, uterus, bladder, and bone. About 40% of people with the syndrome will develop at least one type of cancer; many are treatable, provided the disease is detected early.
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