儿童甲状腺结节和癌症的分子特征和表型-基因型相关性:对62名患者的研究
Zehra Aycan1, Sirmen Kızılcan Çetin1, Hale Kıvrak2
1Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
Hormone research in paediatrics
|October 31, 2025
概括
儿童差异化甲状腺癌 (DTC) 经常含有BRAFV600E突变和基因融合 (RET,NTRK,ALK). 分子分析有助于风险分层和个性化治疗儿科甲状腺结节和癌症.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 分子瘤学分子瘤学
- 遗传学 是一个遗传学.
背景情况:
- 由于恶性瘤风险,儿童甲状腺结节和癌症存在独特的临床管理挑战.
- 了解基因型-表型相关性对于个性化的儿科癌症护理至关重要.
研究的目的:
- 为了进行小儿甲状腺结节和癌症的分子特征.
- 在这个人群中调查基因型-表型关系.
主要方法:
- 从小儿甲状腺结节/癌症患者的临床数据和下一代测序 (NGS) 的回顾性分析.
- 对34个基因进行NGS分析,以发现DNA变异,并对基因融合进行RNA测序.
- 使用了来自病理档案的样本和后续临床数据.
主要成果:
- 在62名儿科患者中,59.7%患有差异化甲状腺癌 (DTC).
- 在80%的DTC患者中发现了致病变体,包括BRAFV600E (37%).
- 在32%的DTC患者中发生了RET,NTRK和ALK融合; BRAFV600E和NCOA4-RET融合表明了高风险的DTC.
结论:
- BRAFV600E和特定的基因融合是儿科DTC的关键分子发现.
- 分子分析可以指导预后和治疗,即使是最初的良性或不确定的甲状腺结节诊断.
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