首页|期刊导航|中国癌症杂志|甲状腺癌组织病理学与分子病理学整合诊断的2025年新进展

甲状腺癌组织病理学与分子病理学整合诊断的2025年新进展OA

Integrated histopathological and molecular pathological diagnosis of thyroid carcinoma:a 2025 update

中文摘要英文摘要

近年来,甲状腺癌的病理学诊断与分子检测领域取得突破性进展.第5版世界卫生组织(World Health Organization,WHO)内分泌与神经内分泌肿瘤分类的正式发布、2025年美国甲状腺协会(American Thyroid Association,ATA)成人分化型甲状腺癌诊疗指南的更新、中华医学会《甲状腺癌术后病理诊断专家共识(2025版)》的出台,标志着甲状腺癌诊疗进入"组织病理学+分子病理学整合诊断"的新时代.本综述基于最新发布的国际分类体系、指南文件及国内专家共识,结合文献证据,对甲状腺癌病理学诊断和分子检测的关键更新进行归纳和分析.最新进展主要体现在以下方面:① 第5版WHO分类将甲状腺滤泡上皮源性肿瘤分为分化型甲状腺癌、高级别非间变性甲状腺癌和未分化癌三大类,并首次系统引入以BRAF样与RAS样肿瘤为核心的分子分型框架;② 儿童与成人甲状腺癌虽组织学标准一致,但分子特征迥异,儿童以激酶融合(RET、NTRK、ALK)为主,且与弥漫硬化型及浸润性滤泡亚型甲状腺乳头状癌高度相关;③ 2025版ATA指南明确了与筛状桑葚状甲状腺癌等病理学表现相关的遗传综合征的胚系基因检测指征;④ 中国专家共识强调血管浸润计数、结外侵犯评估及分子检测的时空异质性在术后病理学检查报告中的重要性.基于组织学形态、免疫表型和分子检测的整合诊断模式是甲状腺癌精准诊疗的发展方向.病理科医师应掌握最新分类体系,合理运用分子检测技术,并在多学科诊疗团队中发挥核心决策作用.

In recent years,breakthrough progress has been made in the pathological diagnosis and molecular testing of thyroid carcinoma.The release of the 5th edition World Health Organization(WHO)classification of endocrine and neuroendocrine tumors,the update of the 2025 American Thyroid Association(ATA)management guidelines for adult patients with differentiated thyroid carcinoma,and the publication of the Chinese Medical Association Expert consensus on postoperative pathological diagnosis of thyroid carcinoma(version 2025)mark the entry of thyroid carcinoma diagnosis and treatment into a new era of"integrated histopathological and molecular pathological diagnosis".This review is grounded in the latest international classification systems,clinical practice guidelines,and domestic expert consensus statements,and is supplemented by evidence from the published literature.It summarizes and critically analyzes key updates in the pathological diagnosis and molecular testing of thyroid carcinoma.The principal advances covered in this review are highlighted in the following aspects:① The 5th edition WHO classification categorizes follicular cell-derived thyroid tumors into differentiated thyroid carcinoma,high-grade non-anaplastic thyroid carcinoma and anaplastic thyroid carcinoma,and for the first time systematically introduces a molecular subtyping framework(BRAF-like and RAS-like tumors);② Although histological criteria are identical in children and adults,molecular profiles differ markedly,with kinase fusions(RET,NTRK,ALK)being predominant in children and strongly associated with the diffuse sclerosing and infiltrative follicular variants of papillary thyroid carcinoma;③ The 2025 ATA guidelines have clarified the indications for germline genetic testing in hereditary syndromes associated with pathological features such as cribriform-morular thyroid carcinoma;④ The Chinese expert consensus emphasizes the importance of quantification of vascular invasion,assessment of extranodal extension,and recognizing the spatiotemporal heterogeneity of molecular testing in postoperative pathological reports.The integrated diagnostic model combining histomorphology,immunophenotype and molecular testing represents the future direction of precision diagnosis and treatment of thyroid carcinoma.Pathologists should master the latest classification system,appropriately apply molecular testing techniques,and play a central decision-making role in multidisciplinary treatment teams.

刘志艳

上海交通大学医学院附属第六人民医院病理科,上海 200233

医药卫生

甲状腺癌病理学诊断分子检测第5版世界卫生组织分类美国甲状腺协会指南专家共识

Thyroid carcinomaPathological diagnosisMolecular testing5th edition World Health Organization classificationAmerican Thyroid Association guidelinesExpert consensus

《中国癌症杂志》 2026 (7)

636-641,6

国家自然科学基金面上项目(82472629)上海市自然科学基金(23ZR1448200)上海东方英才计划拔尖项目(BJWS2025042)上海市第六人民医院2025年度医学教育研究课题(毕业后教育)(LYBYHZD202501). National Nature Science Foundation of China(82472629)Nature Science Fund of Science and Technology Commission of Shanghai Municipality(23ZR1448200)Shanghai Leading Talent Program of Eastern Talent Plan(BJWS2025042)Shanghai Sixth People's Hospital 2025 Research Project on Medical Education(Postgraduate Education)(LYBYHZD202501).

10.19401/j.cnki.1007-3639.2026.07.002

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