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Cowden syndrome, also known as Cowden disease or multiple hamartoma syndrome, is a rare inherited condition with benign (non-cancerous) growths in different parts of the body, as well as an increased risk for some types of cancer. CS belongs to a family of syndromes called the PTEN hamartoma tumor syndromes.
People with Cowden syndrome can have different types of benign growths (many of which are hamartomas). These are most often found on the skin and in the lining of the mouth and nose, but they can appear in other parts of the body as well. Benign growths in people with Cowden syndrome can include:
People with Cowden syndrome also have an increased risk for certain types of cancer, including breast, thyroid, endometrial, colon, rectal, kidney, and skin cancers. They’re also more likely to develop these cancers at a younger age, as well as to develop more than one cancer during their lifetime.
Some people might be described as having Cowden-like syndrome if they have some of the characteristic features of Cowden syndrome, such as developing cancers at a young age, but they don’t meet the criteria for a diagnosis of Cowden syndrome (see below).
Most often, Cowden syndrome is caused by an inherited change in the PTEN gene. The PTEN gene is a tumor suppressor gene. It normally makes a protein that helps keep cell growth under control, which helps keep tumors from forming. When the PTEN gene is mutated, its tumor suppressing function is lost, allowing tumors to form.
Most people with Cowden syndrome inherit a mutated PTEN gene from either parent. If a person has Cowden syndrome, they have a 50/50 chance of passing the PTEN gene mutation on to each of their children. However, in some people with Cowden syndrome, the gene mutation isn’t inherited from a parent. Instead, it’s a random event that happens very early in life (possibly even before birth). It can then be passed down to that person’s children.
Inherited changes in some other genes, such as the KLLN and WWP1 genes, are also thought to cause Cowden syndrome in some families.
Options exist for people who carry a PTEN gene mutation and might want to have children. For more information, talk with an assisted reproduction specialist at a fertility clinic.
Cowden syndrome is thought to be rare, although it is probably under-diagnosed. It is estimated that Cowden syndrome affects about 1 in every 200,000 to 250,000 people.
People are diagnosed with Cowden syndrome based mainly on sets of major and minor diagnostic criteria. There are different sets of criteria. The criteria used by the National Comprehensive Cancer Network (NCCN) is shown here:
A person with no family history of Cowden syndrome can be diagnosed with Cowden syndrome if they have:
OR
People who meet these criteria are typically referred for genetic testing to determine if they carry a PTEN gene mutation.
The greatest cancer risk for people with Cowden syndrome is female breast cancer. The lifetime risk of breast cancer for a woman with Cowden syndrome is estimated to be in the range of 25% to 50%. Breast cancer may develop earlier in women with Cowden syndrome than in the general population.
The risk of thyroid cancer in people with Cowden syndrome is estimated to range from 3% to 38%. People with Cowden syndrome most commonly have the follicular type of thyroid cancer, but they may also have the papillary type.
The risk for melanoma of the skin for people with Cowden syndrome is thought to be about 6%. It is important to be aware of this risk because steps can be taken to lower risk as early as childhood by using sunscreen and protective clothing.
Because people with Cowden syndrome have an increased risk for some types of cancer, medical experts typically recommend getting screened for these cancers, often starting at an early age. For example, experts from the NCCN recommend the following:
Screening options may change over time as new technologies are developed and more is learned about Cowden syndrome. It’s important to discuss the best cancer screening options for you with your health care team, as each person is different.
If you are concerned about your risk of cancer, talk with your health care team. It can be helpful to bring someone along to your appointments to take notes. Consider asking your health care team the following questions:
If you’re concerned about your family history and think your family may have Cowden syndrome, consider asking the following questions:
Developed by the American Cancer Society medical and editorial content team with medical review and contribution by the American Society of Clinical Oncology (ASCO).
Bubien V, Bonnet F, Brouste V, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013;50(4):255-263.
MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US). Cowden syndrome. 2021. Accessed at https://medlineplus.gov/genetics/condition/cowden-syndrome on January 24, 2024.
National Comprehensive Cancer Network (NCCN). Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 2.2024. Accessed at https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf on January 24, 2024.
Nelen MR, Kremer H, Konings IB, et al. Novel PTEN mutations in patients with Cowden disease: Absence of clear genotype-phenotype correlations.
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Pilarski R, Burt R, Kohlman W, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: Systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607-1616.
Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW. Predicting PTEN mutations: An evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. J Med Genet. 2011;48(8):505-512.
Stanich PP, Roberts ME. PTEN hamartoma tumor syndromes, including Cowden syndrome. UpToDate. 2023. Accessed at https://www.uptodate.com/contents/pten-hamartoma-tumor-syndromes-including-cowden-syndrome on January 24, 2024.
Tan MH, Mester JL, Ngeow J, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18(2):400-407.
Last Revised: March 1, 2024
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