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生殖线倾向对儿科甲状腺癌的贡献
Claudia Harrison1, Alise K Blake1, Yin Su2
1Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
许多患有甲状腺癌的儿童携带致癌基因病原体变体 (PVs). 建议对小儿甲状腺癌患者进行基因检测,特别是年幼的儿童或有癌症病史的儿童.
科学领域:
- 儿科瘤学 儿科瘤学
- 癌症遗传学 癌症遗传学
- 基因组医学是基因组医学.
背景情况:
- 儿童甲状腺癌是罕见的,对其遗传基础的理解有限.
- 生殖系遗传因素在癌症倾向中起作用,但它们对小儿甲状腺癌的贡献需要进一步调查.
研究的目的:
- 确定患有甲状腺癌的儿童队列中致癌基因 (CPG) 的致病变异 (PVs) 的流行率和谱.
- 为了将生殖系遗传发现与临床特征,瘤病理学和患者结果相关联.
主要方法:
- 对71名患有甲状腺癌的儿童进行回顾性分析,这些儿童接受了生殖基因检测.
- 评估CPG中PV患者的比例.
- 遗传发现与临床数据的相关性,包括诊断时的年龄,瘤组织学,先前的癌症病史,治疗和生存率.
主要成果:
- 儿童甲状腺癌患者中有25% (18/71) 在CPG中隐藏了PV.
- 诊断时的年龄较小 (<11岁),甲状腺髓癌组织学和先前的癌症病史与PVs的存在有显著联系.
- 在没有先前化疗或放射治疗的患者中发生了与RB1相关的瘤.
结论:
- 患有甲状腺癌的儿童中有很大一部分携带CPG PVs,这凸显了生殖系遗传学的重要性.
- 对所有被诊断患有甲状腺癌的儿童,特别是那些年轻的儿童,有骨髓组织学或先前癌症病史的儿童,应考虑遗传咨询和检测.
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