关键词: 儿童, 青少年, 甲状腺癌, 点突变, 融合突变

Abstract: Developments in the molecular biology of thyroid carcinoma in children and adolescents        YANG Ling-yi, GUO Kai, QIAN Kai, et al.  Department of Head and Neck Surgery, Renji Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
Corresponding author：WANG Zhuo-ying, E-mail:zhuoyingwang@hotmail.com
Abstract    Thyroid carcinoma is a rare malignancy in children and young adolescents（children and young adolescents，CAYA），but its incidence is increasing year by year. Compared to the adult，CAYA thyroid carcinoma is more malignant. Therefore, it is of great significance to study its genetic landscape. Point mutation，fusion mutation and gene amplification are the key factors driving the genesis and development of thyroid carcinoma. The incidence of gene fusion in CAYA thyroid carcinoma patients is significantly higher than that in adults. And compared with mononucleotide point mutation，the presence of fusion mutation is associated with higher invasive clinicopathological features of tumor and poorer prognosis. The molecular and biological background difference between CAYA and adults may be one of the important reasons for their distinct clinical manifestation and prognosis. With the in-depth study through high-throughput sequencing and gene chip on CAYA thyroid carcinoma，not only new genetic changes have been identified，but also the correlation between molecular events and the biological behavior, targeted therapy and prognosis of CAYA thyroid carcinoma patients has been updated. Therefore, a comprehensive understanding of the molecular biological characteristics of CAYA thyroid carcinoma patients can better provide individualized clinical diagnosis and treatment for them.

Key words: children, adolescents, thyroid carcinoma, point mutation, fusion mutation