在儿童和年轻成年人甲状腺结节中的DICER1变异
Karolina Mastnikova1, Barbora Bulanova Pekova1, Vlasta Kuklikova1
1Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic.
Thyroid : official journal of the American Thyroid Association
|September 16, 2024
概括
DICER1基因的致病变体在儿科甲状腺结节中很常见,并且与不那么激进的乳头甲状腺癌 (PTC) 有关. 这表明,在DICER1阳性,低风险的PTC病例中,可能需要更保守的管理.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 儿科 儿科 儿科
背景情况:
- DICER1基因变异与儿科甲状腺结节有关,但数据有限.
- 了解这些变异对于小儿甲状腺癌预后至关重要.
研究的目的:
- 在一大批儿科甲状腺结核中检测DICER1基因变异.
- 为了将DICER1变异与儿科甲状腺癌的临床病理学数据和预后相关联.
主要方法:
- 350名儿科和年轻成人患者 (2-21岁) 的回顾性队列研究.
- 分析新鲜冷的甲状腺结节和细针吸收活检 (FNAB) 样本.
- 下一代测序和多重结合依赖的探头放大用于变体检测.
主要成果:
- 在6.9%的患者中发现了DICER1变异;在45.8%的患者中发现了生殖系变异,在37.5%的患者中发现了体质变异.
- DICER1阳性乳头甲状腺癌 (PTC) 与卵泡亚型,封装和更大的尺寸有关.
- DICER1阳性PTC的甲状腺外延伸和淋巴结转移较少,75%的患者表现出良好的治疗反应.
结论:
- 在儿童和年轻成年人甲状腺结核中经常检测到DICER1基因变异.
- 具有DICER1阳性的PTC具有较低的侵入性,支持低风险病例的保守管理.
- 对DICER1在小儿甲状腺结核中的作用进行进一步的研究是有必要的.
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