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Updated: Jun 5, 2025

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在无塑性甲状腺癌中TBC1D125'UTR突变的高患病率
Guanghui Hu1,2, Junyu Xue1, Ju Yu3
1Department of Endocrinology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
Thyroid : official journal of the American Thyroid Association
|December 17, 2024
概括
这项研究揭示了形甲状腺癌 (ATC) 中常见的TBC1D12 5'未翻译区域 (5'UTR) 突变. 这些突变与乳头甲状腺癌 (PTC) 的攻击性特征有关,这表明甲状腺癌在进展中可能发挥作用.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 无塑性甲状腺癌 (ATC) 是一种罕见且具有高突变负担的侵袭性恶性瘤.
- 非编码基因组在ATC中的作用,除了端粒酶逆转录酶 (TERT) 促进子突变之外,仍然在很大程度上未被探索.
研究的目的:
- 调查ATC中非编码突变的流行率和重要性,重点关注TERT,TBC1D12,GPR126,SDHD和PLEKHS1.
- 探索TBC1D12 5'未翻译区域 (5'UTR) 突变与皮肤状甲状腺癌 (PTC) 中临床病理学特征的关联.
主要方法:
- 桑格测序被用来分析28个ATC样本和细胞系中的TERT促进体,TBC1D12 5'UTR,GPR126内核6,SDHD促进体,PLEKHS1促进体和BRAF的突变.
- 分析了癌症基因组图谱 (TCGA) 甲状腺癌数据集,以评估TBC1D12 5'UTR突变流行率和PTC中的临床病理学关联.
主要成果:
- 在82.1%的ATC样本中发现了TERT,SDHD,PLEKHS1,TBC1D12 5'UTR和GPR126内子6的非编码突变.
- 在78.6%的ATC中发生了TERT促进子突变,而TBC1D12 5'UTR热点突变存在于50%的ATC和1.4%的PTC中.
- 在PTC中TBC1D12 5'UTR突变与诊断时的年龄较大,先进的病理T阶段 (T3/T4) 和整体先进的瘤阶段显著相关.
结论:
- 这项研究首次确定了ATC中TBC1D12 5'UTR突变的高患病率.
- 在PTC中,TBC1D12突变可能与侵略性瘤特征有关,因此需要在更大的队列中进一步调查.
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