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基因突变的检测是否可以识别低风险或高风险的乳头甲状腺微癌? 来自393个案例的数据使用了下一代测序

Lei Jin¹, Liang Zhou¹, Jian-Biao Wang¹

¹Department of Head and Neck Surgery, Affiliated Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

International journal of endocrinology

|January 25, 2024

概括

下一代测序 (NGS) 确定瘤大小,而不是BRAF V600E突变,是高风险乳头甲状腺小癌 (PTMC) 的关键指标. 瘤≤5mm需要专门的治疗策略.

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:

乳头甲状腺微瘤 (PTMC) 在风险分层方面提出了诊断挑战.
确定高风险PTMC的可靠生物标志物对于有效的患者管理至关重要.

研究的目的:

评估下一代测序 (NGS) 在评估乳头甲状腺微癌 (PTMC) 风险方面的实用性.
确定PTMC中遗传变化和临床病理特征之间的相关性.

主要方法:

对393个固定在甲,嵌入的PTMC组织 (≤15mm) 的NGS分析.
评估基因变异,包括BRAF V600E突变,KRAS,NRAS,RET/PTC重组,以及TERT促进子突变.
遗传发现,临床病理学特征和瘤风险分层之间的相关性分析.

主要成果:

在87.0%的病例中检测到基因变异,其中BRAF V600E突变是最常见的 (84.5%).
BRAF V600E突变与较大的瘤直径有很强的关联,但与高风险的PTMC或高级临床病理特征不一致.
瘤大小≥5mm与更高的PTMC风险显著相关 (OR=2.55,P<0.001).

结论:

BRAF V600E突变不是确定高风险PTMC的唯一可靠生物标志物.
瘤大小是决定PTMC攻击性的重要因素.
直径≤5mm的PTMC病例代表了一个独特的子集,需要量身定制的治疗方法.

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Next-generation Sequencing

Next-generation Sequencing

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Next-Generation Sequencing Methods
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