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Qiang Wang¹, Bo Yu², Shuilong Zhang¹

¹Department of Thyroid Surgery, Shanxi Provincial People's Hospital, No. 29, Shuangta East Street, Yingze District, Taiyuan, 030012, Shanxi, China.

Molecular diagnosis & therapy

|June 19, 2024

概括

年轻的乳头甲状腺癌 (PTC) 患者表现出淋巴结转移的增加. BRAF突变与RET融合相关,这表明PTC的预后较差.

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:

乳头甲状腺癌 (PTC) 是全球最常见的甲状腺癌亚型,在中国的发病率正在上升.
了解PTC的遗传情景和临床相关性对于改善诊断和治疗策略至关重要.

研究的目的:

在PTC患者中调查甲状腺癌相关基因的突变频率.
分析PTC中基因变异和临床数据之间的相关性.

主要方法:

在700名PTC患者中对57个与甲状腺癌相关的基因进行基因组DNA测序.
对突变频率的分析,包括BRAF和RET的变化.
基因突变与临床参数 (如年龄,性别和瘤阶段) 之间的相关性分析.

主要成果:

在83.6%的患者中发现了驱动基因突变,在76.4%的患者中发现了BRAF突变 (主要是BRAF^V600E).
在28名患者中观察到RET融合.
较年轻的患者 (<55岁) 和男性患者表现出更高的N阶段 (淋巴结转移) 的趋势.
更高的BRAF等位基频率和RET融合与先进的T和N阶段相关.

结论:

年轻的PTC患者更容易发生淋巴结转移.
较高的BRAF突变频率与较高的RET融合发生率有关,可能表明预后较差,转移风险增加.

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