PTEN Hamartoma Tumor syndrome (PHTS) is a rare genetic condition that can affect children and adults. Over the years, many different names have been used to describe what we now consider the variability of features we see in PHTS. Other names for PHTS have included Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome.
Individuals with PHTS syndrome have an increased chance to develop benign growths, neurodevelopmental differences such as autism or intellectual disability and certain cancers in adulthood.
PHTS is caused by a harmful change (called a mutation or pathogenic variant) in the PTEN gene. PTEN gene variants are inherited in an autosomal dominant pattern, meaning that children someone who carries a variant each have a 50% risk to inherit the variant and associated risks. This also means women and men both have the PTEN gene and have the same chance to inherit and pass down variants in this gene. Therefore, both sides of the family are important when assessing inherited risk. However, the associated cancers and screening recommendations are different between men and women.
Cancers commonly associated with PHTS include:
Cancer Type |
General Population Risk | PTHS Risk |
12% |
30-50% | |
Male Breast |
0.1% | unknown |
0.9% |
5-10% | |
2.6% |
5-10% | |
Some data suggests there may be a slight increased risk for other types of cancer, such as renal, glioblastoma, melanoma, lung, pancreatic, ovarian, and bladder cancers. |
Some of the other characteristic signs of PTHS include:
Genetic testing for pathogenic variants in PTEN are currently available, but there are a few different ways to approach testing:
Determining whether an individual meets criteria for genetic testing for PTHS is very complex, and would likely be best left to a genetic counselor or other healthcare provider. PTHS can be diagnosed by a clinical exam performed by a physician familiar with PTHS, or by genetic testing for pathogenic variants in the PTEN gene.
If you are tested and found to have a pathogenic variant in the PTEN gene, it is recommended to discuss your management plan with your healthcare team, and if available, to seek consultation through a specialized high-risk clinic. General recommendations are included here based on updated guidelines of the NCCN, but may be tailored to your specific medical and family history.
Childhood (below age 18):
For Women:
PTEN Foundation: PTEN Hamartoma Tumor Syndrome Foundation
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