Endocrine Abstracts

Background: PTEN hamartoma tumour syndrome (PHTS) is a rare autosomal dominant disorder characterised by macrocephaly and multiple hamartomas. It carries an increased risk of several cancers, including breast, thyroid and endometrium. PHTS is caused by inactivating mutations of PTEN (phosphate and tensin homologue deleted on chromosome 10), which encodes a tumour suppressor phosphatase. Published guidelines for surveillance are available for adult patients but not advocated in children. There is evidence of a broader spectrum of clinical features emerging making decisions surrounding appropriate paediatric surveillance and counselling highly complex.

Patients and methods: We manage two siblings with a confirmed germline truncating mutation in PTEN (R233X) inherited from their mother, who developed a compressing thyroid goitre requiring near-total thyroidectomy aged 28 years. Both children have macrocephaly and developmental delay with autistism but are otherwise asymptomatic (aged 7 and 6 years). A primary search of Medline via PubMed and secondary searches via national guideline databases were carried out.

Aim: To examine the literature for existing guidelines and epidemiological data to produce a comprehensive screening plan for our paediatric PHTS patients.

Results: 12 relevant papers and two published guidelines were identified. Consensus guidelines recommend surveillance from 18 years unless there is a family history of cancer <23 years. However, a recent prospective study reported an increased risk of thyroid cancer from early childhood.

Conclusions: Available guidance for the management in childhood of PHTS patients is limited. We recommend surveillance from the point of diagnosis with annual thyroid ultrasound and targeted clinical review.