What is PHTS?

PTEN hamartoma tumour syndrome (PHTS) is a rare genetic disorder caused by germline pathogenic mutations in the PTEN tumour suppressor gene.

The PTEN gene is crucial for maintaining control over cell and tissue growth and acts as a key internal 'brake' that prevents unrestricted cell division and growth. Molecularly, PTEN is a phosphatase that limits the growth-promoting action of the so-called ‘PI3K signalling pathway’. Due to its crucial importance, pathogenic mutations in PTEN that prevent it from functioning can have damaging consequences.

Individuals who are born with a PTEN mutation can be diagnosed as having Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS), or Autism Spectrum Disorder (ASD) associated with macrocephaly (large head). Due to their shared genetic aetiology, these conditions, when caused by mutations in PTEN, are collectively recognised as PHTS.

The clinical manifestations of PHTS are diverse, but commonly include increased risk of cancers (e.g. breast, thyroid, endometrial, kidney, colorectal and possibly melanoma), benign “hamartoma” tumours in several tissues, as well as macrocephaly, neurodevelopmental delay and autism.

There is no cure or treatment, and current standard of care consists of cancer surveillance in conjunction with behavioural therapy and surgical intervention, as appropriate.

For further information about PHTS, please see our patient resources page: