Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome

Abstract

Objective: Children with PTEN hamartoma tumor syndrome (PHTS) are at increased risk for developing thyroid abnormalities, including differentiated thyroid carcinoma (DTC). The Dutch PHTS guideline recommends ultrasound surveillance starting from age 18 years. Since the literature describes PHTS patients who developed DTC before this age, the Dutch PHTS expertise center has initiated annual ultrasound surveillance starting from age 12 years. The purpose of this study was to identify the yield of thyroid ultrasound surveillance using this cut-off.

Methods: A retrospective, single center, cohort study was conducted. Pediatric PHTS patients who received thyroid ultrasound surveillance before age 18 years between 2016-2023 were included. Medical records were reviewed. Primary outcomes included prevalence and time to develop thyroid nodules ≥10 mm, nodular growth, goiter, thyroiditis and DTC. Descriptive statistics and Kaplan-Meier analyses were performed.

Results: Forty-three patients were included. Two (5%) were diagnosed with DTC at ages 12 and 17 years. Both DTCs were identified as minimally invasive follicular carcinoma at stages pT3NxMx and pT1NxMx respectively. A total of 84% were diagnosed with thyroid abnormalities at a median age of 12 (9-18) years. Most common findings were benign, including nodular disease (74%), goiter (30%) and autoimmune thyroiditis (12%). Nodular growth was observed in 14 patients (33%) resulting in (hemi)thyroidectomy in 7 (16%).

Conclusion: Thyroid ultrasound surveillance resulted in the detection of DTC in 2/43 (4.65%) PHTS patients before age 18. These findings support the recommendation to initiate thyroid ultrasound surveillance in children with PHTS from at least age 12, preferably within an expertise center.

Keywords: Cowden syndrome; children; differentiated thyroid carcinoma; goiter; thyroid nodules; thyroid ultrasound surveillance; PTEN hamartoma tumor syndrome.