DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies—Letter

Abstract

Schultz and colleagues have proposed surveillance guidelines for children and adults with confirmed DICER1 mutations (1). These were developed in response to increased recognition of pathogenic germline DICER1 mutations, a hereditary cancer predisposition syndrome that conveys an increased risk of developing characteristic neoplasms, particularly in early childhood. We are writing specifically with respect to the thyroid surveillance recommended by Schultz and colleagues. The recommendation is to perform thyroid ultrasound from age 8, repeated every 2 to 3 years, or sooner if clinically warranted and that all thyroid nodules undergo fine-needle aspiration (FNA). Thyroidectomy is not recommended, even in the setting of multinodular goitre, citing the typically indolent nature of most thyroid nodules and cancer in this group. We suggest that in some scenarios, thyroidectomy may be warranted, without preoperative FNA. We report a previously well 10-year-old male, with a confirmed pathogenic germline DICER1 variant. He presented with a large multinodular goitre causing significant airway obstructive symptoms. Thyroid ultrasound showed at least 10, predominantly solid nodules (largest 31 mm), and no cervical lymphadenopathy. Total thyroidectomy was performed to relieve his airway