Sunday 29th September 2019 : 03:30 – 06:30
PTEN Hamartoma Tumour Syndrome (PHTS, often shortened to PTEN) is a rare genetic condition. It is thought to affect around 200-300 people in the UK, although the number of patients identified is about 150 (as of July 2017). It is caused by an alteration of the genetic code in a gene called PTEN. This is an abbreviation of its full name: Phosphatase And Tensin Homolog. Alterations are sometimes passed down from parent to child, and sometimes the alteration is spontaneous (de novo).
Sometimes referred to by its older classifications of Cowden Syndrome (CS) or Bannayan Riley Ruvulcaba Syndrome (BRRS), these syndromes (collection of symptoms) were first identified in the years before the development of genetic testing. Following the discovery that these different conditions were caused by the same gene, they were amalgamated under one name; PHTS or PTEN Hamartoma Tumour Syndrome.
There is a wide range of symptoms associated with the condition which can vary considerably in severity. When recognised in children it can account for issues such as a big head (macrocephaly) , developmental delay, and autism. There is an increased risk of certain types of cancer in adults. People with the condition may have other problems affecting their skin including unusual pigmentation and wart-like lesions. Some people have fatty lumps called lipomas or overgrowth of blood vessels (arterio-venous malformations).
If you are waiting for a diagnosis, are newly diagnosed, or just have suspicions, please take a look at our “New to PHTS” page.
More detailed information can be found on our “On Diagnosis” page.
There is no current treatment or cure. Patients are managed according to their symptoms. Doctors will discuss appropriate cancer surveillance for each person.
Research is ongoing to try to understand the variability and to try to identify treatments and therapies. More information can be found on the PTEN Research Foundation website – www.ptenresearch.org.
Welcome to PTENUKI, the PTEN UK and Ireland Patient Group.
The first PTEN / PHTS patient meeting in the UK was in Winchester in September 2015, and throughout 2016 a number of additional meetings and conversations led to the coming together of several patients, family members and professionals, and to the registering of the patient group as a UK based charity (Registered Charity: 1172205) on 22nd March 2017.
The patient group’s purpose is to improve the lives of patients, parents and carers of all ages, in the United Kingdom and Ireland, who are affected by PTEN genetic alterations, PTEN Hamartoma Tumour Syndrome (PHTS), Cowden Syndrome (CS), or Bannayan-Riley-Ruvalcaba Syndrome (BRRS) through better patient support, increased awareness, more accurate and accessible information, earlier diagnosis and intervention, greater research into treatment and prevention, and improved coordination of care.
Our Official Charitable Objects
1. Patient Support –
To promote and protect the health of persons affected by PTEN Hamartoma Tumour Syndrome and related syndromes in the UK and Ireland by the provision of support, information and practical advice for such persons, their families and carers.
2. Improved Healthcare –
To improve the healthcare of persons affected by PTEN Hamartoma Tumour Syndrome and related syndromes in the UK and Ireland through advancing the education and awareness of medical professionals and the general public
3. Research –
To support and promote research, especially but not exclusively into the diagnosis, treatment and prevention of PTEN Hamartoma Tumour Syndrome and related syndromes in the UK and Ireland