PHTS causes hamartomas to form throughout various tissues in your body. Specific signs and symptoms vary depending on which syndrome associated with PHTS you have. If you have PHTS, you may develop any of the following: V体育平台登录.
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PTEN hamartoma tumor syndrome (PHTS) results from a mutated, or changed, PTEN gene. PTEN releases an enzyme that tells cells to stop dividing VSports注册入口. This enzyme also tells a cell when it’s time to die (apoptosis) to make space for new, healthy cells.
With PHTS, the PTEN gene doesn’t work correctly. As a result, cells may keep dividing and grow out of control. They may eventually form tumors V体育官网入口. These tumors are usually benign, but they can become cancerous.
PHTS is an inherited genetic condition, which means children can inherit the mutated gene from their biological parents.
You inherit PHTS in an autosomal dominant pattern. Everyone has two copies of the PTEN gene. You inherit one copy from each parent. With PHTS, you inherit one working copy of the PTEN gene and one with the mutation. Although you have one working copy, the mutated PTEN gene causes problems associated with PHTS.
In some instances, you don’t inherit a mutated PTEN gene. Instead, you develop a new mutation before you’re born, while still an embryo or fetus.
Regardless of how you got the mutation, once you have it, you have a 50% chance of passing the copy of the mutated gene onto your child.
If you have Cowden syndrome, you’re at greater risk than the general population for certain cancers. You’ll need lifelong cancer screening to manage the risk. Screening can’t prevent cancer, but early detection can lead to early treatment and better outcomes.
You may be at greater risk of:
More research is needed to understand the cancer risks of BRRS.
Your healthcare provider will diagnose you with PHTS if they find a mutation in the PTEN gene. You’ll need to receive genetic testing to see if you have a mutation, which will involve a blood test.
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The National Comprehensive Cancer Network and Cleveland Clinic have established genetic testing guidelines for Cowden syndrome that are updated frequently based on new research. Additionally, the International Cowden Consortium has developed criteria for diagnosing Cowden syndrome. Your healthcare provider will consider factors like your symptoms to determine whether you should get tested. They’ll consider whether you have a family member with a history of tumors or PTEN mutations.
There aren’t standard guidelines for diagnosing BRRS, but your healthcare provider may recommend tests for diagnosing Cowden syndrome.
If you have the mutation, your family members should also receive testing.
There isn’t a cure for PHTS. Currently, scientists are researching treatments that may work best on cancers that involve a PTEN mutation.
Your care team may include multiple healthcare providers who can help address your symptoms and issues, ranging from abnormal growths to developmental delays. They’ll assess your cancer risk to determine how often you should receive cancer screenings.
There aren’t specific guidelines for treating benign or malignant tumors with a PTEN mutation. Instead, treatment will address your symptoms. Treatments may include:
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If you have Cowden syndrome, you’ll need lifelong surveillance to monitor for benign and cancerous growths to detect any issues at the earliest, most treatable time. Although there aren’t standard guidelines for monitoring people with BRRS, your healthcare provider may recommend similar screening as with Cowden syndrome.
Screening procedures may include frequent:
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Depending on the results, you may need a biopsy to determine if abnormal tissue contains cancer cells.
Your outlook depends on many factors, including your symptoms and overall health. You’re at increased risk of developing certain types of cancer if you have PHTS/Cowden syndrome. This is why cancer screenings are so important. Catching and treating cancer early is one of the best ways to improve your prognosis.
There’s no way to prevent PHTS, but regular cancer screenings can help catch cancer early, when it’s most treatable. Follow your healthcare provider’s guidance on whether and how often you should be screened.
Follow your healthcare provider’s guidance on how often you should get cancer screenings. It’s also important to know the potential warning signs of cancer. Ask your healthcare provider about any symptoms that you should be on the lookout for.
A PTEN mutation can cause cells to grow out of control and form tumors. While PHTS is most commonly associated with benign tumors called hamartomas, out-of-control cell growth can also cause malignant tumors to form. Both tumor types occur when cells multiply rapidly. Unlike benign growths that stay in one place, cancerous tumors can spread throughout your body (metastasize). The cancer cells damage healthy tissue as they spread.
Having PHTS increases your risk of developing several cancers, especially cancers that affect your breast, thyroid and gastrointestinal (GI) tract. Many people with PHTS have a larger-than-average head size (macrocephaly), skin growths and various benign tumor types.
Learning of a PHTS diagnosis can be difficult, whether the diagnosis applies to you or your child. It’s a condition that requires close monitoring — news that most people find frustrating. Still, careful screening can potentially save or prolong your life if you develop cancer. Ask your healthcare provider about your health risks if you’re diagnosed with PHTS. Ask about your care team’s approach to monitoring your health, including how your care plan can potentially improve your long-term health.
When you’re diagnosed with cancer, you want expert and compassionate care right away. At Cleveland Clinic we personalize your treatment to match your needs.
Last reviewed on 12/16/2022.
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