相关实验视频

Updated: May 10, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

关于EGFR放大与异常外基子20插入的相关性,使用cobas EGFR突变测试v2报告

Man-San Zhang¹, Yi-Chen Yeh^2,3, Hsien-Neng Huang^4,5

¹Department of Pathology, National Taiwan University Hospital, Taipei, Taiwan.

|April 30, 2024

概括

科巴斯EGFR测试可能会在肺癌中不准确地报告表皮生长因子受体 (EGFR) 异位子20插入 (ex20ins). 高EGFR放大,而不是ex20ins,解释了许多差异,需要通过其他方法验证.

科学领域:

在瘤学瘤学.
分子诊断学分子诊断学
遗传学遗传学是一个

背景情况:

精确检测表皮生长因子受体 (EGFR) 异位子20插入 (ex20ins) 突变对于肺癌治疗至关重要.
科巴斯EGFR测试v2报告了ex20ins突变,但Sanger测序的验证显示了差异,即使瘤含量很高.

研究的目的:

通过使用桑格测序和Idylla测定验证cobas报告的肺癌EGFR ex20ins突变.
为了识别与虚假阳性cobas ex20ins报告相关的临床病理因素.
调查EGFR基因拷贝数改变在这些差异中的作用.

主要方法:

追溯收集了123个科巴斯报告的肺癌病例.
使用桑格测序和伊迪拉测试进行验证.
用于基因复制数分析的EGFR光在位杂交 (FISH).
验证和未验证组之间的临床病理特征的比较.

主要成果:

在123个 (42%) cobas 报告的 ex20ins 突变中,有52个无法通过桑格测序验证.
未经验证的组显示了显著更高的瘤含量,差异化和缩.
在92%的未经验证病例中,EGFR光 in situ杂交 (FISH) 显示出高EGFR复制数的增加或放大,这表明这些是实际发现,而不是ex20ins突变.
科巴报告的同时出现经典EGFR和ex20ins突变的病例也显示出高EGFR放大,缺乏真正的ex20ins.

结论:

异常的科巴斯EGFR ex20ins报告经常与EGFR放大有关,而不是真正的ex20ins突变.
独立验证cobas报告的ex20ins,特别是具有同时发生的经典EGFR突变的ex20ins,是必不可少的.
EGFR FISH对于识别可能被误解为ex20ins的高EGFR复制数变化至关重要.

更多相关视频

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Published on: August 14, 2018

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

相关概念视频

Mitogens and the Cell Cycle

Mitogens and the Cell Cycle

Mitogens and their receptors play a crucial role in controlling the progression of the cell cycle. However, the loss of mitogenic control over cell division leads to tumor formation. Therefore, mitogens and mitogen receptors play an important role in cancer research. For instance, the epidermal growth factor (EGF) - a type of mitogen and its transmembrane receptor (EGFR), decides the fate of the cell's proliferation. When EGF binds to EGFR, a member of the ErbB family of tyrosine kinase...