doi:10.19538/j.cjps.issn1005-2208.2025.09.22

Chinese Journal of Practical Surgery ›› 2025, Vol. 45 ›› Issue (09) : 1076-1080. DOI: 10.19538/j.cjps.issn1005-2208.2025.09.22

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Abstract

Sporadic medullary thyroid carcinoma (MTC) accounts for approximately 75%~80% of all MTC cases and frequently presents with lymph node or distant metastases at an early stage, leading to considerable variability in prognosis. Genetic studies have shown that about 60% of cases harbor RET somatic mutations, with the RET M918T mutation being the most common, indicating strong tumor aggressiveness; RAS mutations are generally mutually exclusive with RET alterations. Serum calcitonin (Ctn) is the most sensitive and specific biomarker, and preoperative levels can predict the risk of lymph node metastasis. The doubling times of Ctn and carcinoembryonic antigen (CEA) serve as key prognostic indicators. Ultrasonography combined with CT or MRI enhances the detection of metastatic lesions, while 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) and 68Ga-somatostatin receptor imaging are valuable for recurrence surveillance. Surgery remains the cornerstone of treatment, with most guidelines recommending total thyroidectomy with central lymph node dissection. In carefully selected low-risk patients, unilateral lobectomy may be considered, while lateral neck dissection should be individualized. For advanced or unresectable cases, targeted therapy has become an important option, with RET inhibitors demonstrating superior efficacy. Prognostic evaluation should integrate genetic mutation status and dynamic changes in Ctn and CEA to guide individualized follow-up and treatment. In the future, precision medicine strategies based on molecular features are expected to improve survival outcomes and quality of life in patients with sporadic MTC.

Key words

medullary thyroid carcinoma / sporadic / genetic mutations / diagnosis and screening / treatment strategies

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