PDF(Pubmed)
Abstract：
UNASSIGNED: Thyroid cancer rarely occurs in children and adolescents. Molecular markers such as BRAF, RAS, and RET/PTC 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).
UNASSIGNED: 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.
UNASSIGNED: A sample of 15 pediatric PTCs revealed a detection rate of 73.33% (11/15) for driver gene mutations BRAF V600E and RET 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.
UNASSIGNED: BRAF V600E mutation and RET 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.
UNASSIGNED: 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.
UNASSIGNED: A sample of 15 pediatric PTCs revealed a detection rate of 73.33% (11/15) for driver gene mutations BRAF V600E and RET 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.
UNASSIGNED: BRAF V600E mutation and RET 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.
摘要：
■甲状腺癌很少发生在儿童和青少年中。分子标记如BRAF,RAS,和RET/PTC已广泛用于成人PTC。目前尚不清楚这些分子标记在儿科患者中是否具有同等的应用潜力。本研究旨在探索基于下一代靶向测序的多基因联合分析在小儿甲状腺乳头状癌（PTC）中的潜在实用性。
■回顾性筛查丽水区中医医院儿科诊断为PTC（年龄18岁及以下）的患者。对15名儿童（平均年龄14.60岁）和9名成人（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。人口统计信息,临床指标,收集超声影像学资料和病理资料。Kendall相关性检验用于建立儿科患者的分子变异与临床特征之间的相关性。
■15个儿科PTC的样本显示，驱动基因突变BRAFV600E和RET融合的检出率为73.33％（11/15）。与成人PTC相比，儿科PTC的基因突变情况更为复杂.两组之间有六个突变基因重叠，另外17个独特的突变基因仅在儿科PTC中被鉴定。成年PTC中只有一个独特的突变基因。小儿PTC的肿瘤直径趋于小于4cm(p<0.001),淋巴结转移数大于5（p<0.001）。儿科PTC特有的特定基因的突变可能通过对激素合成产生不利影响而导致疾病的发作和进展。分泌，和行动机制，以及甲状腺激素信号通路的功能。但是,需要额外的实验来验证这一假设。
■BRAFV600E突变和RET融合参与了青少年PTC的发生和发展。对于不能通过细针穿刺活检确定为良性或恶性的小儿甲状腺结节，多基因联合检测可为临床医师的个性化诊疗提供参考。
■回顾性筛查丽水区中医医院儿科诊断为PTC（年龄18岁及以下）的患者。对15名儿童（平均年龄14.60岁）和9名成人（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。人口统计信息,临床指标,收集超声影像学资料和病理资料。Kendall相关性检验用于建立儿科患者的分子变异与临床特征之间的相关性。
■15个儿科PTC的样本显示，驱动基因突变BRAFV600E和RET融合的检出率为73.33％（11/15）。与成人PTC相比，儿科PTC的基因突变情况更为复杂.两组之间有六个突变基因重叠，另外17个独特的突变基因仅在儿科PTC中被鉴定。成年PTC中只有一个独特的突变基因。小儿PTC的肿瘤直径趋于小于4cm(p<0.001),淋巴结转移数大于5（p<0.001）。儿科PTC特有的特定基因的突变可能通过对激素合成产生不利影响而导致疾病的发作和进展。分泌，和行动机制，以及甲状腺激素信号通路的功能。但是,需要额外的实验来验证这一假设。
■BRAFV600E突变和RET融合参与了青少年PTC的发生和发展。对于不能通过细针穿刺活检确定为良性或恶性的小儿甲状腺结节，多基因联合检测可为临床医师的个性化诊疗提供参考。
