PTEN-related Thyroid Nodules in Pediatric Population: A Retrospective Cytology-Histology Study in a Single Institution

Summary: Introduction: Genomic alterations in PTEN are associated with thyroid neoplasms, including multinodular follicular adenoma, follicular carcinoma, or papillary thyroid carcinoma (PTC). With the increasing use of molecular tests, PTEN alterations are more frequently detected by thyroid fine needle aspiration (FNA). However, due to the low frequency of pediatric thyroid tumors, the literature describing PTEN-related thyroid neoplasms in the pediatric population is limited. Materials and Methods: After IRB approval, a retrospective search was conducted at our children's hospital from July 2014 to March 2024 for PTEN-related thyroid nodules. We identified 7 patients with a total of 13 FNA cases. Two patients were known to have PTEN hamartoma syndrome before FNAs, while the other 5 patients did not have any significant past medical history. Six patients underwent total thyroidectomy. Results: In this study, we conducted cytology-histology correlation and summarized the cytological characteristics of PTEN-related thyroid nodules. Our findings indicate that PTEN-related thyroid nodules exhibit relatively bland cytological features, and are often diagnosed as benign (Bethesda category II) or atypical (Bethesda category III). Conclusions: PTEN-related thyroid nodules typically demonstrate relatively bland cytological features. Cytopathologists should consider this entity particularly in pediatric patients with multiple nodular thyroid disease. Correlation of cytological features with molecular testing is recommended to better characterize these lesions.