表皮生长因子受体 (EGFR) 放大可能导致Cobas无效EGFR突变测试v2结果
Min-Shu Hsieh1,2,3, Tze-Chun Hung1, Hsien-Neng Huang3,4
1Department of Pathology, National Taiwan University Hospital, Taipei 10845, Taiwan.
Diagnostics (Basel, Switzerland)
|May 1, 2025
概括
不有效的科巴斯EGFR检测结果是罕见的. 较低的内部控制 (IC) 值是由EGFR放大引起的,而不是不充分的DNA,防止不必要的再剖析.
科学领域:
- 在瘤学瘤学.
- 分子诊断学 分子诊断
- 遗传学 遗传学 是一个
背景情况:
- 由于内部控制 (IC) 问题,cobas EGFR 测试 v2 可能会产生无效结果.
- 常见的IC问题包括"IC未检测到"",IC超出范围:高Ct值"或"IC超出范围:低Ct值".
研究的目的:
- 为了确定无效科巴斯EGFR测试结果的发生率.
- 在科巴斯EGFR测试中研究低IC Ct值的潜在机制.
主要方法:
- 对无效的科巴斯EGFR试验病例的回顾性审查.
- 病理学审查,以评估DNA适用于不可检测或高IC Ct值的充分性.
- 在低IC Ct病例中使用桑格测序,伊迪拉测定,下一代测序 (NGS) 和光在位杂交 (FISH) 证实了EGFR放大.
主要成果:
- 无效科巴斯EGFR检测结果的发生率为0.99% (41/4148例).
- 在四个病例中证实了EGFR放大,具有较低的IC Ct值.
- 在这些情况下,在稀释的DNA上取得了成功的cobas测试.
结论:
- 低IC Ct结果的原因是EGFR放大,而不是样本不足.
- 对于IC Ct值较低的患者,再活检是不必要的.
- 替代测定或稀释的DNA使EGFR突变测试成功.
相关概念视频
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...
mTOR Signaling and Cancer Progression
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...


