PTEN Hamartoma Tumour Syndrome (PHTS) is a rare genetic condition caused by pathogenic variants (mutations) in the PTEN gene. PHTS includes the following conditions, Cowdens Syndrome (CS), Bannayan-Riley Ruvalcaba Syndrome (BRRS). The PTEN gene is a tumour suppressor gene, whose job within the body is stop cells developing into tumours. When somebody is affected with PHTS, their PTEN gene is faulty and cannot stop these tumours forming (small or large). As a result these tumours are at higher risk of becoming cancerous.
Symptoms can be managed separately by following current cancer surveillance guidelines.
Some of the features of PHTS include;
- Macrocephaly (large head)
- Developmental delay (learning disability)
- Autism / Autism Spectrum Disorder
- Skin problems; benign bumps on the skin (papillomas), fatty tumours (lipomas), penile freckling
- Benign growths (usually in the breasts, uterus, thyroid, kidney and stomach)
- Increased risks of cancer, particularly in the breast, uterus, thyroid, kidney, stock and cerebellum
It is estimated that there are 200-300 people, both adults and children within the UK with PHTS.
PHTS is unique to the individual and can present no symptoms or complications. Being diagnosed with PHTS increases your risk of cancer, it doesn’t mean that you will get it.