Table 4

Proposed surveillance recommendations for PTEN hamartoma tumour syndrome

Type of screeningWhen to beginHow often
 In general
 Complete physical exam and lesion assessmentAt PHTS diagnosisAnnually
 Patient educationRegarding signs and symptoms of cancer
 Psychological interventions
 Psychomotor assessmentIn children, at diagnosisAnnually
 Brain MRIOnly if symptomatic
 Thyroid ultrasoundAge 10 yearsAnnually
 Total thyroidectomyIf multinodular goitre or if surgery required
 Dermatological examAt PHTS diagnosisAnnually
Vascular system
 Clinical examAt PHTS diagnosisAnnually
 Surgery/embolisationAt vascular lesion diagnosis
Breast in female
 If mild breast dystrophy
  Clinical breast exam and breast ultrasoundAge 25 yearsAnnually
  Mammogram and breast MRIAge 30 or 5 years before earliest known breast cancer in the familyAnnually
 If severe breast dystrophy
  Clinical breast exam and breast MRIAge 20 years or before if symptomaticAnnually
  Prophylactic mastectomyAge 25–30 years
 ColonoscopyAge 30 yearsEvery 5 years or every 3 years if polyposis or adenomas found
 Renal ultrasound and/or renal MRIAge 30 yearsAnnually if family history of renal cancer or every 2 years if not
 Endometrial ultrasoundAge 35–40 years or 5 years before earliest known endometrial cancer in the familyAnnually
 HysterectomyIf symptomatic
  • PHTS, PTEN hamartoma tumour syndrome.