Purpose or Case Report: Cancer predisposition syndromes (CPS) are rare genetic disorders with increased risk of benign and malignant neoplasms. A few of these syndromes predispose to thyroid gland pathology, including thyroid carcinoma. The purpose of this study is to review the spectrum of diagnostic outcomes of thyroid abnormalities in pediatric patients diagnosed with a CPS at a tertiary care pediatric hospital.
Methods & Materials: This research ethics board-approved retrospective analysis evaluated thyroid gland imaging in patients <18 years of age with a confirmed diagnosis of a CPS associated with an increased risk for thyroid gland lesions, who were seen in the Division of Endocrinology and Metabolism and the Department of Genetics of a tertiary care pediatric institution between January 2000 to September 2019. Diagnoses of thyroid lesions were obtained by histopathology from thyroidectomies, fine needle aspiration, sonographic and clinical follow-up for up to 2 years. The CPS included in our database search were: Familial adenomatous polyposis (FAP), Carney complex, DICER1 related disorders, PTEN hamartoma tumor syndrome (PHTS), Werner syndrome, multiple endocrine neoplasia (MEN), familial paraganglioma, Li–Fraumeni syndrome, McCune–Albright and Peutz–Jeghers.
Results: 92 thyroid ultrasound exams of 59 patients (31 male and 28 female) with median age 13 years (range 3 -18 years) were reviewed. Diagnoses of CPS included FAP (n = 11), PHTS (n = 16), DICER1 (n = 2), Li-Fraumeni (n = 8), MEN2A (n = 9), and McCune-Albright (n = 3). 9 underwent total thyroidectomy and 2 fine needle aspirations. Variable thyroid lesions detected including: a) TI-RADS4 nodules in 1/11 FAP and 2/16 PHTS, b) multinodular goiter (MNG) in 2/2 DICER1 mutations, c) ectopic intra thyroid thymus in 1/9 MEN2A, d) non-specific < 2 mm hypoechoic lesion in 1/8 LFS; e) heterogeneous gland in 2/3 McCune-Albright (1 developed MNG over time). There were two malignant thyroid nodules, one in a patient with MEN2, and the other in a patient with PHTS. Finally, there were four malignant-precursor lesions from thyroidectomies of patients with MEN2.
Conclusions: Results from this study describe the US features of benign and malignant thyroid lesions encountered in patients with CPS associated with thyroid gland pathology. The spectrum of thyroid gland lesions including thyroid carcinoma encourages early and regular surveillance in these patients.