中国实用外科杂志

中国实用外科杂志

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儿童及青少年甲状腺癌病理学特点及其临床意义

官    青，王    宇   

  1. 复旦大学附属肿瘤医院头颈外科 复旦大学上海医学院肿瘤学系，上海200032
  • 出版日期:2022-06-01

  • Online:2022-06-01

摘要： 儿童及青少年甲状腺癌发生率在过去的几十年中有明显的上升趋势，儿童及青少年甲状腺癌在发病机制、病理学特点、临床表现、疾病转归等方面明显有别于成人甲状腺癌，另外由于其生存期长以及特殊的生理发展需要，在诊疗方案制定、新药临床试验等方面需要单独讨论研究。儿童及青少年甲状腺癌的病理学类型以甲状腺乳头状癌为主，其次为甲状腺滤泡状癌和甲状腺髓样癌，甲状腺低分化癌及未分化癌相对罕见。得益于基因检测技术近期的飞速发展，儿童及青少年甲状腺癌的驱动基因特点也逐渐清晰，与成人甲状腺癌相比最主要的特点是融合基因的比例相对较高，乳头状癌中RET、NTRK、ALK的融合基因最常见，滤泡状癌及低分化癌中DICER1的突变基因最常见，在分子诊断试剂盒设计时应充分考虑儿童与成人的差异性。近年来，多激酶抑制剂如索拉菲尼、仑伐替尼，以及针对RET、NTRK、ALK等融合基因的单基因靶向治疗在成人的临床试验中也有了实质性的进展，鉴于医学伦理的限制，儿童及青少年的临床试验相较成人滞后，尽管如此，对于碘难治性分化型甲状腺癌以及局部晚期病人的的探索性治疗已逐步展开。肿瘤驱动基因的全面检测以及单靶点药物的精准治疗，为晚期儿童及青少年甲状腺癌的诊治开启了新纪元。

关键词: 儿童, 青少年, 甲状腺癌, 病理, 基因检测, 靶向治疗

Abstract: Pathology features and clinical significances of thyroid carcinoma in children and adolescents        GUAN Qing，WANG Yu. Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai 200032, China
Corresponding author：WANG Yu, E-mail: neck130@hotmail.com
Abstract    The incidence of pediatric thyroid cancer has increased during the past decades. Compared to adult thyroid cancer，pediatric thyroid cancer exhibits major differences in pathogenesis，pathological features，clinical presentation，and prognosis，meanwhile，since most of the children survive this disease and need to avoid long term harm，unique guidelines for treatment and special regulations for clinical research are needed. Papillary thyroid cancer accounts for most of the pediatric thyroid cancer，follicular and medullary thyroid cancer are less common，and poorly differentiated and anaplastic thyroid cancer are rare. Next generation sequencing has depicted a clearer picture of oncogene in pediatric thyroid cancer which，compared with adults，has a higher proportion of gene fusions，like RET，ALK，NTRK in papillary thyroid cancer while DICER1 mutation more common in follicular and poorly differentiated thyroid cancer. Along with the progress of gene test，target therapy was also moving forward rapidly. Multi kinase inhibitor like sorafenib，lenvatinib and selective fusion gene directed therapy may restore radioiodine avidity for 131I refractory patients and induce tumor regression for unresectable invasive thyroid cancer. In conclusion，it is now a new era for pediatric thyroid cancer precise medicine.

Key words: children, adolescents, thyroid cancer, pathology, gene test, target therapy