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《2025版美国甲状腺学会成人分化型甲状腺癌管理指南》解读：基因分型指导下甲状腺癌的精准诊疗模式
Interpretation of the 2025 American Thyroid Association Management Guidelines for Adult Patients with Differentiated Thyroid Cancer: precision treatment guided by genotyping
- 中国癌症杂志 2025年35卷第9期 页码：833-840
- 作者机构：
1. 康复大学青岛医院（青岛市市立医院）本部肿瘤放射治疗科，山东 青岛 266012
2. 北京大学国际医院肿瘤中心，北京 102206
- 作者简介：
[ "王昊（ORCID: 0000-0001-9962-9965），博士，副主任医师，康复大学青岛医院（青岛市市立医院）本部肿瘤放射治疗科主任。" ]
[ "梁军，北京大学国际医院党委书记、院长、肿瘤中心主任，北京肿瘤医院大内科副主任，教授、博士研究生导师。原中国临床肿瘤学会副理事长，中国临床肿瘤学会指导委员会副主任委员，中国临床肿瘤学会抗肿瘤药物安全管理专家委员会主任委员，中国临床肿瘤学会胃癌专家委员会副主任委员，中国抗癌协会整合胃癌专家委员会副主任委员，中国临床肿瘤学会肝癌专家委员会副主任委员，国家卫生健康委能力建设和继续教育肿瘤学专家委员会副主任委员，中华医学会肿瘤学分会肿瘤内科专家委员会副主任委员，中国医师协会结直肠肿瘤内科治疗专业委员会副主任委员，中国抗癌协会肿瘤姑息和康复专业委员会副主任委员，国家抗癌药物临床应用监测管理与协调委员会副主任委员，中国中药协会肿瘤药物研究专家委员会主任委员，国家卫生健康委肝癌专家治疗组专家组成员。研究方向：消化道肿瘤的综合及个体化治疗。承担或参与包括国家重点研发计划“精准医学研究”重点专项、国家十三五重点项目-中国肿瘤基因图谱计划及国家自然科学基金等国家级及省部级研究课题多项，在SCI收录期刊上发表论文数十篇，研究成果获中华医学科技奖、华夏医学科技奖等国家级及省部级奖励10余项。参编卫生部五年制本科生教材《肿瘤学概论》，作为专家组成员参与制定《原发性肝癌诊疗规范》《癌痛诊疗规范》《原发性肝癌诊疗指南》等多部指南与规范。" ]
- 基金信息：
DOI：10.19401/j.cnki.1007-3639.2025.09.003
中图分类号： R736.1收稿：2025-09-10，
修回：2025-09-14，
纸质出版：2025-09-30
- 稿件说明：
移动端阅览
王昊, 梁军. 《2025版美国甲状腺学会成人分化型甲状腺癌管理指南》解读：基因分型指导下甲状腺癌的精准诊疗模式[J]. 中国癌症杂志, 2025,35(9):833-840.
Hao WANG, Jun LIANG. Interpretation of the 2025 American Thyroid Association Management Guidelines for Adult Patients with Differentiated Thyroid Cancer: precision treatment guided by genotyping[J]. China Oncology, 2025, 35(9): 833-840.
王昊, 梁军. 《2025版美国甲状腺学会成人分化型甲状腺癌管理指南》解读：基因分型指导下甲状腺癌的精准诊疗模式[J]. 中国癌症杂志, 2025,35(9):833-840. DOI： 10.19401/j.cnki.1007-3639.2025.09.003.
Hao WANG, Jun LIANG. Interpretation of the 2025 American Thyroid Association Management Guidelines for Adult Patients with Differentiated Thyroid Cancer: precision treatment guided by genotyping[J]. China Oncology, 2025, 35(9): 833-840. DOI： 10.19401/j.cnki.1007-3639.2025.09.003.
摘要
2025年美国甲状腺学会发布的《2025版美国甲状腺学会成人分化型甲状腺癌管理指南》，在基因分型方面做出了重大更新。本文以根据基因突变进行医疗决策为主线，系统解读了基因分型在确诊前鉴别诊断、确诊后家系分析、手术方式指导、术后复发风险评级、靶向治疗及免疫治疗中的作用及应用。指南更新了基因分型的规范化应用内容：① 病理学诊断方面，基因分型最早应用于病理学鉴别诊断，2025版ATA指南进一步明确了不同基因突变在不同病理学类型中的分布特征，协助病理科医师实现更精确分型，特别是对极低恶性潜能肿瘤的诊断，避免过度治疗。② 家系分析和遗传咨询方面，确诊后建议进行系统家系评估，2025版ATA指南建议根据临床证据严格分类并选择性进行胚系基因检测，根据分型执行相对应的遗传咨询策略。③ 手术和复发风险分层方面，2025版ATA指南进一步细化了基因分型在手术方式决策和复发风险分层中的辅助应用，继续强调基因分型是对传统危险度分层系统的补充。④ 靶向治疗方面，2025版ATA指南推荐治疗前进行基因分型，根据靶点精确指导靶向治疗。要求所有放射性碘难治性分化型甲状腺癌（differentiated thyroid cancer，DTC）患者在靶向治疗前均需进行基因检测，以突变类型为依据选择靶向药物；对使用靶点特异性药物后再次进展者，建议重新活检寻找可干预靶点；如无可治疗靶点，则推荐使用多激酶抑制剂。⑤ 免疫治疗方面，2025版ATA指南推荐治疗前进行基因检测，免疫治疗用于高肿瘤突变负荷（high tumor mutational burden，TMB-H）的放射性碘难治性DTC患者。本文对2025版ATA指南中基因分型在DTC临床管理中的应用要点进行了全面梳理和深入解读。
Abstract
The “2025 American Thyroid Association Management Guidelines for Adult Patients with Differentiated Thyroid Cancer” introduce significant updates in genotyping. This article systematically interpreted the role and clinical applications of genotyping in pre-diagnostic differentiation
post-diagnostic familial analysis
surgical approach guidance
postoperative recurrence risk stratification
as well as targeted therapy and immunotherapy with a focus on mutation-based medical decision-making. Key updates on standardized genotyping applications include: ① In pathological diagnosis
genotyping was first applied in pathological differentiation. The 2025 ATA guidelines further clarify the distribution patterns of different genetic mutations across pathological subtypes
enabling more precise classification
particularly for tumors of very low malignant potential
to avoid overtreatment.② In familial analysis and genetic counseling
systematic familial evaluation is recommended post-diagnosis. The 2025 ATA guidelines propose strict clinical evidence-based categorization and selective germline genetic testing
with tailored genetic counseling strategies based on genotype. ③ In surgical approach and recurrence risk stratification
the 2025 ATA guidelines refine the auxiliary role of genotyping in surgical decision-making and recurrence risk stratification
reiterating that genotyping complements traditional risk stratification systems. ④ In targeted therapy
the 2025 ATA guidelines establish genotyping-guided precision therapy
mandating genetic testing for all radioiodine-refractory differentiated thyroid cancer (DTC) patients before targeted therapy to select mutation-specific agents. For patients progressing on target-specific drugs
re-biopsy is recommended to identify actionable targets. If no treatable target exists
multi-kinase inhibitors are advised. ⑤ In immunotherapy
pre-treatment genetic testing is recommended
with immunotherapy indicated for radioiodine-refractory DTC patients exhibiting high tumor mutational burden (TMB-H). This article provided a comprehensive review and in-depth analysis of the clinical applications of genotyping in DTC management as outlined in the 2025 ATA guidelines.
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references
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