PTEN hamartoma tumour syndrome (PHTS) is a group of genetic conditions caused by genetic changes in the PTEN gene. PTEN gene is a tumour suppressor gene that helps to protect against benign (non-cancerous) and malignant (cancerous) tumours.

PHTS is characterised by growth of multiple hamartomas (benign overgrowth of cells and tissue) that may affect different parts of the body. PHTS is also associated with increased risk of cancer.

The different types of PHTS include:

• Bannayan-Riley-Ruvalcaba syndrome
• Cowden syndrome
• Lhermitte-Duclos disease
• Proteus-like syndrome
• Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms: PHTS, PTEN hamartomatous tumour syndrome.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:306498 PTEN hamartoma tumor syndrome

ICD-11: LD2D.Y Other specified phakomatoses or hamartoneoplastic syndromes

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

PHTS is a genetic condition, caused by disease-causing genetic changes (variants) in the PTEN gene on chromosome 10.

Everyone has two copies of each gene, one from their mother and one from their father. PHTS is an autosomal dominant condition, which means that having genetic variant in just one of the PTEN gene copies can result in PHTS.

The genetic variant can be passed onto the next generation. If a parent has the autosomal dominant gene variant, there is a 50% chance that they will pass that genetic variant to each of their children. More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the treatment of PHTS may include general practitioners (GP), oncologists, dermatologists, and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. Palliative care is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. For more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

Healthcare professionals involved in the treatment of PHTS may include general practitioners (GP), oncologists, dermatologists, and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

If you know of any relevant clinical care guidelines, please let us know via the Contribute page.

The following resources include clinical management for health professionals:

• NSW Government: PTEN (PTEN hamartoma/Cowden) – risk management include cancer/tumour risk management guidelines.
• NSW Government: PTEN – genetic testing

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Australian Organisation:
We are not aware of any rare disease organisations specifically for PHTS in Australia. If you are aware of any, please let us know via the Contribute page. The following organisations provide support for people affected with cancers:

Rare Cancers Australia
Website: rarecancers.org.au

International Organisations:
Facing Hereditary Cancer Empowered (FORCE) (United States of America)
Website: https://www.facingourrisk.org/

PTEN Research (United Kingdom)
Website: https://www.ptenresearch.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

PHTS vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on PHTS can be found at:

• Rare Cancers Australia: PTEN Hamartoma Tumour Syndrome
• National Organization for Rare Disorders (NORD): PTEN Hamartoma Tumor Syndrome
• Genetic and Rare Diseases (GARD) Information Center: PTEN hamartoma tumor syndrome

GeneReviews®: PTEN Hamartoma Tumor Syndrome

Orphanet: PTEN hamartoma tumor syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. If you would like to see more information added to this page, please reach out via the Contact form. If you would like to share relevant resources for this condition, please visit the Contribute page.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.