Department of Ultrasound, Traditional Chinese Medicine Hospital of Nanjing Lishui District, Nanjing, Jiangsu, China.
Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine, Nanjing, Jiangsu, China.
Front Endocrinol (Lausanne). 2024 Jun 5;15:1405142. doi: 10.3389/fendo.2024.1405142. eCollection 2024.
Thyroid cancer rarely occurs in children and adolescents. Molecular markers such as , , and have been widely used in adult PTC. It is currently unclear whether these molecular markers have equivalent potential for application in pediatric patients. This study aims to explore the potential utility of a multi-gene conjoint analysis based on next-generation targeted sequencing for pediatric papillary thyroid carcinoma (PTC).
The patients diagnosed with PTC (aged 18 years or younger) in the pediatrics department of Lishui District Hospital of Traditional Chinese Medicine were retrospectively screened. A targeted enrichment and sequencing analysis of 116 genes associated with thyroid cancer was performed on paraffin-embedded tumor tissues and paired paracancerous tissue of fifteen children (average age 14.60) and nine adults (average age 49.33) PTC patients. Demographic information, clinical indicators, ultrasonic imaging information and pathological data were collected. The Kendall correlation test was used to establish a correlation between molecular variations and clinical characteristics in pediatric patients.
A sample of 15 pediatric PTCs revealed a detection rate of 73.33% (11/15) for driver gene mutations and fusion. Compared to adult PTCs, the genetic mutation landscape of pediatric PTCs was more complex. Six mutant genes overlap between the two groups, and an additional seventeen unique mutant genes were identified only in pediatric PTCs. There was only one unique mutant gene in adult PTCs. The tumor diameter of pediatric PTCs tended to be less than 4cm (p<0.001), and the number of lymph node metastases was more than five (p<0.001). Mutations in specific genes unique to pediatric PTCs may contribute to the onset and progression of the disease by adversely affecting hormone synthesis, secretion, and action mechanisms, as well as the functioning of thyroid hormone signaling pathways. But, additional experiments are required to validate this hypothesis.
mutation and fusion are involved in the occurrence and development of adolescent PTC. For pediatric thyroid nodules that cannot be determined as benign or malignant by fine needle aspiration biopsy, multiple gene combination testing can provide a reference for personalized diagnosis and treatment by clinical physicians.
甲状腺癌在儿童和青少年中很少见。 、 和 等分子标志物已广泛应用于成人 PTC。目前尚不清楚这些分子标志物在儿科患者中的应用潜力是否相当。本研究旨在探讨基于下一代靶向测序的多基因联合分析在儿童甲状腺乳头状癌（PTC）中的潜在应用价值。
回顾性筛选在丽水市中医院儿科诊断为 PTC（年龄在 18 岁以下）的患者。对 15 例儿童（平均年龄 14.60 岁）和 9 例成人（平均年龄 49.33 岁）PTC 患者的石蜡包埋肿瘤组织和配对癌旁组织进行了 116 个与甲状腺癌相关的基因的靶向富集和测序分析。收集了人口统计学信息、临床指标、超声成像信息和病理数据。采用 Kendall 相关检验建立了儿科患者分子变异与临床特征之间的相关性。
15 例儿科 PTC 样本的检测率为 73.33%（11/15），存在驱动基因突变和融合。与成人 PTC 相比，儿科 PTC 的遗传突变景观更为复杂。两组共有 6 个突变基因重叠，另外 17 个仅在儿科 PTC 中发现的独特突变基因。成人 PTC 中只有一个独特的突变基因。儿科 PTC 的肿瘤直径倾向于小于 4cm（p<0.001），并且淋巴结转移数超过 5 个（p<0.001）。儿科 PTC 特有的特定基因突变可能通过对激素合成、分泌和作用机制以及甲状腺激素信号通路的功能产生不利影响，导致疾病的发生和发展。但是，需要进一步的实验来验证这一假设。
突变和融合参与了青少年 PTC 的发生和发展。对于通过细针抽吸活检无法确定良恶性的儿科甲状腺结节，多基因联合检测可为临床医生提供个性化诊断和治疗的参考。
