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BRAFV600E突变与黑色素瘤的形态和异质性的关联

Ya-Ting Qiu¹, Long-Feng Ke², Wen-Wen Zhang¹

¹Department of Pathology, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital, Fuzhou 350014, China.

Laboratory investigation; a journal of technical methods and pathology

|September 4, 2025

概括

免疫组织化学 (IHC) 准确检测黑色素瘤中的BRAFV600E突变,与qPCR和NGS具有很高的一致性. 这种突变在不同黑色素瘤部位很罕见,与上皮细胞形态有关.

科学领域:

癌症学
分子病理学
皮肤病学

背景情况:

在黑色素瘤的精确治疗中,BRAFV600E突变至关重要.
准确的检测方法对于指导治疗决策至关重要.
了解突变异质及其与形态的相关性是临床相关的.

研究的目的:

在中国黑色素瘤患者中检测BRAFV600E突变的IHC,qPCR和NGS的一致性.
在初级和转移性黑色素瘤中评估BRAFV600E突变异质.
研究BRAFV600E突变状态与瘤细胞形态之间的关联.

主要方法:

收集了555名中国黑色素瘤患者的880个样本.
在所有样本上进行了BRAFV600E的IHC;在385和NGS上进行了qPCR.
分析了瘤内部和瘤内部异质性以及与HE染色细胞形态相关的突变状态.

主要成果:

IHC显示出高一致率: qPCR为96. 36%,NGS为97. 39%.
IHC的总体一致性为98. 80%,敏感度为96. 95%,特异性为99. 46%.
观察到低异质性 (0. 77% 瘤间,0. 34% 瘤内);BRAFV600E与上皮细胞形态之间有显著的关联 (p< 0. 01).

结论:

VE1 IHC是BRAFV600E在黑色素瘤中检测的敏感,特定和一致的方法.
在黑色素瘤中,BRAFV600E突变的异质性较低.
表皮细胞形态与BRAFV600E突变的存在密切相关.

关键词:

BRAF 突变细胞形态不同质性免疫组织化学黑色素瘤

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