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大型多元囊囊中DICER1变异的流行:甲状腺功能,临床和成像特征

Lara Judith Cabral Miranda¹, Débora L S Danilovic², Felipe Augusto Brasileiro Vanderlei³

¹Laboratório de Endocrinologia Celular e Molecular (LIM25), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

Archives of endocrinology and metabolism

|February 8, 2024

概括

生殖系DICER1变体存在于11%的大型多元囊 (MNG) 患者中. 没有发现第二次打击的体质突变,这表明它可能不必用于MNG的发展.

科学领域:

内分泌学在内分泌学.
分子生物学分子生物学
遗传学是一个遗传学.

背景情况:

DICER1基因突变与差异化甲状腺癌 (DTC) 和DICER1综合征有关.
DICER1是已知的DTC驱动器,但也存在于良性甲状腺结节中.
DICER1在良性多元囊 (MNG) 发育中的作用尚未完全理解.

研究的目的:

调查MNG患者中DICER1变异的发生频率.
探索DICER1变体与长期MNG之间的潜在关联.
为了确定MNG发育是否需要第二次打击的体质突变.

主要方法:

从为大MNG进行甲状腺切除术的患者的甲状腺结节样本中对DICER1热点的测序.
对外围血液DNA的分析以确认体质突变.
评估临床和生化数据,包括甲状腺体积,TSH和TI-RADS分类.

主要成果:

11%的评估患者 (715人中154人) 携带DICER1变异 (同或异).
只有一个体质DICER1变异 (rs12018992) 被确定;其他变异是同义的,可能是良性的.
在患有DICER1多态的患者中观察到较低的自由T4水平,无论TSH水平如何.

结论:

胚性DICER1变异在大量MNG个体中 (11%) 可以检测到.
没有第二次突发的体质突变表明,它可能对MNG的发展不至关重要.
DICER1在甲状腺病变中起到驱动作用,但其在MNG病变发生中的作用可能与DTC不同.

关键词:

DICER1 的意思是说.痛风 (Goiter) 是一种疾病.遗传学遗传学遗传学是一个甲状腺结节的发生.

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