Thyroid nodular disease, either multinodular goitre (MNG) or solitary nodule, carries a higher malignancy risk in paediatric patients compared to adults requiring closer monitoring and investigation. We present a case series of patients with multinodular goitre who were confirmed to have tumour predisposition syndromes. Eight patients (six female) with MNG were identified using electronic medical records, based on presence of MNG and/or previous genetic testing confirming either DICER1 or PTEN mutation. Information was collected on demographics, thyroid imaging, histopathology, genetics if available, other medical diagnoses and any family members with the same genetic mutation. Age at diagnosis of MNG ranged from 6 to 15 years, median 12 years. Five of the eight had presented for investigation of a goitre or nodule, three were detected on screening, due to known PTEN mutations. One patient had an inconclusive fine needle aspirate, 6 were referred directly for surgical resection due to MNG size or unusual appearance (5 total, one hemi-thyroidectomy, with later completion thyroidectomy). One patient has not had any intervention to date. Of the 7 thyroidectomies, pathology demonstrated follicular thyroid carcinoma (n=2), papillary thyroid carcinoma (n=1), benign histology (n=4). DICER1 mutation was found in 5 of 8, PTEN in 3 of 8. Of the 5 with DICER1 mutations, two have had Sertoli-Leydig cell tumours (one also has acute myeloid leukaemia), another has an ovarian mass currently under investigation for malignancy. Of those with PTEN mutations, concomitant abdominal possible hamartomas, intra-abdominal lipomata and multiple skin lesions are being monitored. All three patients with PTEN mutations had affected family members. Identified DICER positive family members include several first degree relatives with MNG and one thyroid malignancy. Multinodular goitre is a common cause for presentation to a paediatric endocrinologist. Until recently they have largely been considered to be benign lesions, often not followed long-term. We present data to suggest that moderately large or ultrasonographically unusual MNG in children and adolescents are often the first presentation of tumour predisposition syndromes, such as DICER1, PTEN and Carney complex mutations. As such, we propose that paediatric patients with MNG should have genetic testing.
21 Sep 2023 - 23 Sep 2023