Endocrine Abstracts

Background: Germline mutations in the Phosphatase and Tensin Homolog Hamartoma tumour (PTEN) gene are associated with a number of conditions, collectively known as PTEN hamartoma tumour syndromes (PHTS). Individuals with PHTS are at increased risk of a number of cancers primarily in adulthood including differentiated thyroid carcinoma (DTC) with an estimated lifetime risk of DTC of up to 38%. International guidance recommends screening commencing from 17 years while the 2017-UK national guidelines recommend from 16 years. At our centre, we perform annual thyroid ultrasound scan surveillance from 10 years within a dedicated endocrine tumour clinic.

Aim: To assess the value of the thyroid surveillance screening in the < 18-year paediatric population with PTEN.

Methods: A single centre retrospective study at Birmingham Women’s and Children’s Hospital. All children with germline mutations in the PTEN gene (n=30) were identified over last fifteen years. Children under 10 years at the time of study were excluded (n=10) from analysis. Assessment was through electronic health records for genetic diagnosis, comorbidities and results of their thyroid imaging

Results : 16/20 (80%) had at least one thyroid ultrasound. 8/16 (50%) had significant findings on scan that needed further investigation (additional scan, FNAC or biopsy). Thyroidectomy was recommended in 3/8 (38%). Two children (2/16, 12%) had benign histopathology. One (1/16; 6%) child had DTC (papillary). His first thyroid ultrasound scan was at fourteen years of age confirming right sided growth. He initially underwent right thyroidectomy followed by total thyroidectomy after confirmation of malignancy on histopathology.

Discussion: In our single centre study, 1 child (6%) had a diagnosis of DTC under the age of 18 years which was successfully treated with surgery. This could have been missed if surveillance had commenced at 16 years. Surveillance findings on scan which are benign can cause parental and child anxiety. However, it is important to recognise that earlier thyroid surveillance may be important. More research needs to be done to improve our understanding of the risks and benefits of earlier screening.