Results of a National Audit of Screening Advice

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

Screening advice

Breast

Cancer lifetime up to 85% BRCA-equivalent
Average age at diagnosis 38- (annual MRI from age 30,
46
mammography from 40)
High incidence of fibrocystic
breast disease

Thyroid

Cancer lifetime 35%
(usually follicular, rarely
papillary, never medullary)
Median age at diagnosis 37
Up to 75% risk of
multinodular goitre,
adenomatous nodules &
follicular adenomas

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
endocrinology

Renal

Cancer lifetime up to 35%
(mostly papillary)
Risk starts late 40s

Consider annual urine dip for
haematuria from 40

Table 1. Number of patients diagnosed with cancer
Thyroid
Cancer

Thyroid
Nodules

Thyroid Function
Abnormality

Renal

Colorectal
Cancer

Skin
Cancer

19/99
Age mean
46.21
Range 25 -71

21/175

94/175

20/175

5/175

2/175

7/175

20/175

7/99

Affected prior to PTEN
diagnosis

16

14

38

14

1

2

7

16

-

Detected on screening

2

6

54

3

3

0

0

3

-

Detected between
screening

1

1

2

3

1

0

0

1

-

Diagnosis

Breast Cancer

Affected

Referred

From age

Frequency

LhermitteEndometrial
Duclos

Advice

Consider annual renal
ultrasound from 40
(London group agreed no
screening)

Colorectal

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

Skin &
vascular
system

Melanoma ~5%
Many non-malignant lesions

Brain

Lhermitte-Duclos disease up Symptom enquiry
to 32%
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
common.
management of non-cancer
manifestations
Consider risk-reducing
hysterectomy

Conclusions
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.