A Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients:...

Background and Objectives: Medullary thyroid carcinoma is a rare neuroendocrine malignancy, with sporadic and hereditary forms accounting for 75% and 25% of cases, respectively. This study compares the clinicopathological features of sporadic medullary thyroid carcinoma (sMTC) and hereditary medullary thyroid carcinoma (hMTC) using real-world data to provide risk factors that aid in the early detection of the disease. Materials and Methods: The retrospective study comprised 77 patients with confirmed MTC treated at a tertiary referral center between January 2019 and December 2024. Patients were classified as hMTC (n = 11) or sMTC (n = 66) based on RET proto-oncogene (RET) genetic testing, whereas harboring a germline RET mutation indicated hMTC. Demographic, clinical, laboratory, radiological, histopathological, and genetic data were collected. Results: hMTC patients were significantly younger at diagnosis, with a comparable gender distribution (p = 0.738), and more often had a previous case of MTC within the family history. Pheochromocytoma occurred exclusively in hMTC. Multicentric tumors were more frequent in hMTC, and non-diagnostic Bethesda I cytology was higher in hMTC. Conclusions: While confirming established differences, this study provides detailed pre-operative diagnostic parameters and surgical approaches that can guide clinical decision-making in resource-limited settings where genetic testing may not be immediately available.