PTEN hamartoma tumor syndrome

PTEN hamartoma tumor syndrome (PHTS) is a group of related genetic conditions caused by changes (mutations) in the PTEN gene. This syndrome includes several conditions that were once considered separate, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome. The PTEN gene normally acts as a tumor suppressor, meaning it helps control cell growth. When this gene is not working properly, cells can grow in an uncontrolled way, leading to both non-cancerous growths (called hamartomas) and an increased risk of certain cancers. People with PHTS may develop multiple hamartomas — benign overgrowths of tissue — in various parts of the body, including the skin, thyroid, breast, uterus, and intestines. Common features include skin findings like small bumps on the face (trichilemmomas), papillomatous papules (warty-looking growths) around the mouth, and spots on the gums. A hallmark feature is macrocephaly, meaning a larger-than-average head size. The most serious concern is the significantly increased lifetime risk of developing certain cancers, particularly breast cancer, thyroid cancer, endometrial (uterine) cancer, kidney cancer, and colorectal cancer. There is currently no cure for PHTS, so management focuses on early detection and prevention of cancers through enhanced surveillance programs. This means regular screening with imaging and physical exams starting at specific ages. When cancers or problematic growths do develop, they are treated with standard approaches such as surgery, radiation, or medication. Some patients may also benefit from targeted therapies being studied in clinical trials. Working closely with a team of specialists is essential for managing this condition effectively.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What specific cancer screening schedule do you recommend for me based on my age and features?,Should my family members be tested for the PTEN mutation?,Are there any clinical trials for PTEN hamartoma tumor syndrome that I might be eligible for?,What symptoms or changes should prompt me to seek urgent medical attention?,Should I consider risk-reducing surgery such as preventive mastectomy?,How will this diagnosis affect my children, and when should they start screening?,Can you refer me to a genetic counselor and a mental health professional who understands cancer predisposition syndromes?

Common questions about PTEN hamartoma tumor syndrome

Related conditions

Other rare diseases commonly researched alongside PTEN hamartoma tumor syndrome.

• Bannayan-Riley-Ruvalcaba syndrome→
• Cowden syndrome→
• Juvenile polyposis syndrome→
• Li-Fraumeni syndrome→