7663 Inheritable Forms of Differentiated Thyroid Cancer in a Predominantly Hispanic Pediatric Population
Authors: Delgado E A , Martinez A , Solano N , Baboun D , Brathwaite C , Alkhoury F , Bustamante Escobar C L , Carrillo-Iregui A 
Published: October 2024

Disclosure: E.A. Delgado: None. A. Martinez: None. N. Solano: None. D. Baboun: None. C. Brathwaite: None. F. Alkhoury: None. C.L. Bustamante Escobar: None. A. Carrillo-Iregui: None.

Background: PTEN Hamartoma Syndrome (PHTS) and DICER1 Syndrome are uncommon hereditary conditions causing benign and malignant tumors. Patients exhibiting DICER1 mutation have 5.3% likelihood of developing a tumor before reaching the age of 10, rising to 31.5% by 60. In PHTS, 75% face thyroid issues, with a 21%-38% thyroid carcinoma risk. Pediatric surveillance protocol data is scant; thus, gathering comprehensive data is vital for early tumor detection and management. Objective: Our aim is to determine the prevalence of the hereditary genetic syndromes DICER1 and PTEN associated with differentiated thyroid cancer (DTC) in a predominantly Hispanic pediatric population. This research addresses a knowledge gap in an underrepresented demographic, with the goal of improving diagnosis and management. Methods: Following approval from the Institutional Review Board, we conducted a retrospective examination of medical records from 2012 to 2023, focusing on 213 patients who underwent Ultrasound-Guided Fine Needle Aspiration (US-FNA) for thyroid nodules. Our analysis includes demographics, histopathological diagnoses, and molecular screening results. Results: Participants were predominantly Hispanic children (80%) ranging in age range from 8 to 18 years. The mean age at diagnosis was 15 years (SD± 2.49). Molecular biomarkers for thyroid disease were available in 57 of the 213 patients studied. The predominant genetic mutations identified were BRAF V600E (n=17, 30%), and RET (n=8, 14%), with PTEN showing positivity in 8.7% (n=5) and DICER1 positivity in 12.2% (n=7) of the cases. The analysis identified DTC in 64.9% (n=37) out of the total cohort with molecular markers. Subgroup analysis revealed that within the PTEN-positive subgroup, 20% developed papillary thyroid cancer, while the DICER1-positive subgroup exhibited a 14% incidence of the same cancer type. Inherited forms of thyroid cancer (DICER1 and PTEN) collectively contributed to 5.4% of DTC in our study population. Conclusion: Existing research has indicated inheritable thyroid cancer makes up around 5% of pediatric DTC. Our Hispanic-focused data aligns with prior research in broader populations, reporting low but still significant prevalence of inheritable conditions in thyroid nodules in children and adolescents, The reported cases underscore the significance of screening individuals with thyroid abnormalities for genetic mutations. Additionally, screening individuals with previously diagnosed inherited cancer syndromes for thyroid abnormalities is crucial. Future studies conducted on larger cohorts should investigate the prevalence of inheritable thyroid cancer conditions for further recommendations in surveillance strategies for children or adolescents with genetic mutations such as PTEN and DICER1.

Presentation: 6/1/2024