BRAF V600E和TERT促销基因突变及其对复发性乳头甲状腺癌进展的影响
Endocrine connections
|July 17, 2025
概括
关键的遗传突变和病理标志物预测在皮肤状甲状腺癌 (PTC) 患者在重新手术后复发. TERT促进子突变,BRAF V600E和特定的瘤特征是不良无进展生存 (PFS) 的独立风险因素.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 病理学 病理学 病理学
背景情况:
- 乳头甲状腺癌 (PTC) 是最常见的甲状腺癌亚型.
- 对于PTC重新手术后复发和进展的预测因素仍然不完全理解.
- 需要澄清BRAF V600E,TERT促进子突变和特定病理标记在反复出现的PTC结果中的作用.
研究的目的:
- 研究BRAF V600E和TERT促进体 (TERT-p) 突变对在重新手术后复发PTC患者的无进展生存期 (PFS) 的影响.
- 确定与复发性PTC中临床结果相关的病理标志物.
主要方法:
- 考克斯回归分析被用来确定与PFS相关的参数,在复发性PTC的重新手术后.
- 分析包括遗传突变 (BRAF V600E,TERT-p),病理标记 (极性/细胞凝聚力丧失[LOP/LCC],线粒细胞计数,Ki-67标记指数[LI]) 和外扩展.
- 随访时间平均为重新手术后27个月.
主要成果:
- 在随访期间,21.3%的患者出现了疾病进展.
- TERT促进子突变,BRAF V600E/TERT-p双重突变 (Dmut),LOP/LCC (≥10%),高线粒数 (≥3每2毫米2),高Ki-67 LI和外节延伸与疾病进展显著相关.
- 多变量分析证实TERT-p,Dmut,LOP/LCC,线粒细胞计数,Ki-67 LI和外节延伸是不良PFS的独立风险因素.
结论:
- TERT促进子突变,BRAF V600E/TERT-p双重突变,高Ki-67 LI,LOP/LCC,高的线粒数和外节延伸是复发性PTC再手术后PFS差的独立预测因素.
- 患有这些已识别的风险因素的患者在重新手术后需要密切监测.
- 这些发现有助于风险分层和管理经常性PTC.
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