散发性甲状腺髓样癌诊治策略

doi:10.19538/j.cjps.issn1005-2208.2025.09.22

中国实用外科杂志 ›› 2025, Vol. 45 ›› Issue (09) : 1076-1080. DOI: 10.19538/j.cjps.issn1005-2208.2025.09.22

讲座

散发性甲状腺髓样癌诊治策略

王志宏，张浩

作者信息 +

文章历史 +

摘要

散发性甲状腺髓样癌（MTC）占全部甲状腺髓样癌的75%～80%，早期常出现淋巴结或远处转移，预后差异较大。遗传学研究表明，约60%的病例存在RET基因体细胞突变，其中RET M918T突变最常见，提示肿瘤侵袭性强；RAS基因突变与RET突变多呈互斥关系。血清降钙素（Ctn）是最敏感且特异性最高的标记物，术前水平可预测淋巴结转移风险。Ctn及癌胚抗原（CEA）的倍增时间是关键预后指标。超声结合CT或磁共振成像有助于提高转移检出率，18F-氟代脱氧葡萄糖正电子发射计算机断层扫描（18F-FDG PET/CT）及68Ga生长抑素受体显像在复发监测中具有价值。治疗以手术为主，多数指南推荐全甲状腺切除联合中央区淋巴结清扫，部分低危病人经严格评估可行单侧腺叶切除，颈侧区淋巴结清扫需个体化决策。对于晚期或不可切除病人，靶向治疗成为重要选择，RET抑制剂显示出更高疗效。预后评估需结合基因突变类型、Ctn及CEA动态变化，以制定个体化随访与治疗方案。未来，基于分子特征的精准诊疗策略有望提高病人生存率和生活质量。

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.

导出引用

王志宏, 张浩. 散发性甲状腺髓样癌诊治策略[J]. 中国实用外科杂志. 2025, 45(09): 1076-1080 https://doi.org/10.19538/j.cjps.issn1005-2208.2025.09.22

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