- Hereditary Breast and Ovarian Cancer syndrome (HBOC)
- Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
- Familial Adenomatous Polyposis (FAP)/Attenuated Familial Adenomatous Polyposis (AFAP)
- MUTYH-associated Polyposis syndrome (MAP)
- MUTYH-associated Colon Cancer Risk
- Melanoma Cancer Syndrome (MCS)
- Li-Fraumeni Syndrome (LFS)
- PTEN Hamartoma Tumor syndrome (PHTS)
- Peutz-Jeghers Syndrome
- Hereditary Diffuse Gastric Cancer (HDGC) Syndrome
- Juvenile Polyposis Syndrome (JPS)
- Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT)
- PALB2-associated Cancer Risk
- CHEK2-associated Cancer Risk
- ATM-associated Cancer Risk
- NBN-associated Cancer Risk
- BARD1-associated Cancer Risk
- BRIP1-associated Cancer Risk
- RAD51C-associated Cancer Risk
- RAD51D-associated Cancer Risk
- Polymerase Proofreading-associated Syndrome (PPAS)
- Hereditary Mixed Polyposis Syndrome (HMPS)
PTEN Hamartoma Tumor Syndrome (PHTS) PTEN ASSOCIATED CANCER RISKS
PTEN Hamartoma Tumor Syndrome (PHTS)
PTEN ASSOCIATED CANCER RISKS
What does it mean to have a PTEN gene mutation, and a diagnosis of PTEN Hamartoma Tumor Syndrome (PHTS)?
People with mutations in the PTEN gene have a condition called PTEN Hamartoma Tumor Syndrome, or PHTS. In the past, people with PTEN mutations were sometimes given other diagnoses, depending on their individual symptoms. Examples include the diagnoses of Cowden Syndrome (CS), Bannayan-Riley-Ruvalcaba Syndrome (BRRS), PTEN-related Proteus Syndrome or Proteus-like Syndrome. We now know that all of these conditions are caused by mutations in the PTEN gene.
People with PHTS have a high risk for female breast, endometrial, colorectal, melanoma, kidney, and thyroid cancers.
People with PHTS often have other symptoms that are not cancers. There are a wide variety of symptoms that vary greatly from person to person. One of the most common is a larger than average head size. The technical name for this is macrocephaly. People with macrocephaly may have trouble finding hats or glasses that fit. Other symptoms that are sometimes noticed in patients with PHTS include fibrocystic breast disease, endometrial fibroids, and thyroid abnormalities. Sometimes people with PHTS have benign (non-cancerous) tumors in the brain known as Lhermitte-Duclos disease and/or distinctive types of moles and other skin conditions, such as trichilemmomas, acral keratoses and papillomatous papules. Developmental delay and autism have also been diagnosed in some children with PHTS.
What can be done to protect people with PHTS from cancer and other health problems?
The National Comprehensive Cancer Network (NCCN) provides recommendations for lowering the risk of cancer in men and women with PHTS. These recommendations include starting screening at younger ages than normal and having screenings more often. For example, yearly breast cancer screening with mammograms and/or MRIs should begin no later than age 35. Colonoscopies to check for colon cancer should begin at age 35 or younger, and should be done every 5 years. People with PHTS should also have special screenings that are not usually part of medical care for the general population. Examples include ultrasounds to screen for thyroid and kidney cancers.
Since PHTS can cause a variety of other health concerns, children and adults who are known to have PTEN mutations should have a careful and full evaluation to see if there are any problems that need to be addressed. A brain MRI might be recommended if there are signs of developmental delay or other neurological problems.
Because PHTS is a complicated condition that can affect many aspects of a person’s health, it is recommended that people with mutations in the PTEN gene be cared for by healthcare professionals with experience treating this condition. A list of centers that have specialized knowledge and experience with PHTS is available within our Support Organizations pages.
Additional details about PTEN gene mutations and PHTS, specific recommendations for medical care, and useful information for relatives of people who have a diagnosis of PHTS, are available at _____________________________.
The requested URL /services/clinical-summaries/gene/PTEN/1/html/1/MyriadPro/1 was not found on this server.