Risk Management for PTEN Hamartoma Syndrome

Cowden Syndrome is a rare autosomal dominant condition caused by mutations in the PTEN gene.
It is characterised by multiple hamartomas and an increased risk of certain cancers.

These recommendations are for those who have not been affected by a relevant cancer. It is intended for;

• those with a known PTEN mutation
• those with a 50% risk of being a mutation carrier
• Individuals with a clinical diagnosis of Cowden Syndrome where no mutation has been identified

Individualised surveillance should be made for affected women based on their own post treatment plan.

Exclusion criteria:

• Those with a first degree relative with a clinical diagnosis of Cowden Syndrome in whom no mutation has been inconclusive or not possible

Breast Recommendations

Breast cancer risk – high (uncertain but >30% lifetime risk). Tan Clin Cancer Risk 2012; 18(2): 400

Surveillance
Individualised surveillance is needed in families with a breast cancer diagnosed 35 years or under.

For an unaffected woman:

• Screening should start at 30 years
• Annual MRIs and mammograms (with or without ultrasound scans dependent on individual need) 30-50 years
• Annual mammograms (with or without ultrasound scans dependent on individual need) 50 years onwards

Contraindications
Pregnancy – ultrasound scans may be considered.

Risk Reducing Surgery
Discuss bilateral risk-reduction surgery followed by self-surveillance of the chest wall

Endometrial

Surveillance

• is not recommended

Thyroid

Surveillance

• annual clinical examination
• imaging is not recommended

Renal

Surveillance

• imaging is not recommended

General

Surveillance

• annual physical examination from 18y with a focus on neck, breast and skin