Results of a National Audit of Screening Advice given
to Adults with PTEN Hamartoma Syndrome
Brady A.F.1, Taylor A2, Lachlan K.L.3
1. North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ
2. Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, CB2 0QQ
3. Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, SO16 5YA
We report the results of a national audit of screening advice given to adult patients in the United Kingdom with PTEN Hamartoma
syndrome, a variably penetrant cancer predisposition syndrome with clinical features including macrocephaly and mucocutaneous
signs. Screening guidance was proposed by the Pan Thames Cancer Genetics Group in November 2014 and reviewed at the Spring
Cancer Genetics Group meeting 2015. The audit/baseline survey aimed to establish a baseline for practice in the UK with a view to
completing the audit loop in five years time.
Patients were included in the audit if they had a PTEN mutation or likely pathogenic variant or were at 50% risk, were 16 years or
older at time last advice given, with most recent advice given between August 1st 2010 and August 1st 2015.
A total of 175 patients were included in the survey.
Cancer risk Risk data
Cancer lifetime up to 85% BRCA-equivalent
Average age at diagnosis 38- (annual MRI from age 30,
mammography from 40)
High incidence of fibrocystic
Cancer lifetime 35%
(usually follicular, rarely
papillary, never medullary)
Median age at diagnosis 37
Up to 75% risk of
adenomatous nodules &
As a minimum screen from 16
by USS and TFT.
Younger as guided by family
history or after informed
discussion with family.
Ideally through adult oncology
clinic or paediatric
Cancer lifetime up to 35%
Risk starts late 40s
Consider annual urine dip for
haematuria from 40
Table 1. Number of patients diagnosed with cancer
Range 25 -71
Affected prior to PTEN
Detected on screening
Consider annual renal
ultrasound from 40
(London group agreed no
Cancer lifetime up to 9%
Ascertainment colonoscopy at
Risk starts late 30s
age 35 and 55
More than 90% have polyps, Polyp f/u as required
which may be symptomatic
Many non-malignant lesions
Lhermitte-Duclos disease up Symptom enquiry
Brain MRI only if symptomatic
Endometrial Cancer lifetime up to 28%
Baseline dermatological review
& appropriate f/u
Refer to specialist Gynaecologist
Risk starts late 30s early 40s age 35-40 for discussion of
Benign uterine fibroids very screening options and
management of non-cancer
Screening advice and referral is variable. Most patients were referred for
breast and thyroid screening.
Few patients had renal or Lhermitte-Duclos screening but the detection
rates of 6.67% (3/45) and 12% (3/25) respectively are interesting.
Further evidence is required.
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