Use of a plasma test for verifying epidermal growth factor receptor gene
Use of a plasma test for verifying epidermal growth factor receptor gene
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使用血浆测试验证表皮生长因子受体基因
DOI：
10.1016/j.rmcr.2020.101007
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发表时间：
2020
影响因子：
1.1
通讯作者：
Ohtsuka K
中科院分区：
文献类型：
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作者：
Ogura W;Ohtsuka K
由于表皮生长因子受体酪氨酸激酶抑制剂（EGFR-TKI）可有效治疗EGFR突变的非小细胞肺癌（NSCLC）患者，因此获得准确的EGFR突变检测结果至关重要。对于NSCLC患者，使用市售CobasEGFRMutation检测v2.0进行EGFR突变检测，该检测可用于分析福尔马林固定、石蜡包埋（FFPE）组织（FFPE检测或FT）和血浆样本（血浆检测或PT）。由于复发患者的原发肿瘤组织通常不可用，因此液体样本通常用于EGFR突变检测，但通常使用FT进行检测。在此，我们报告了3例使用FFPE原发肿瘤组织样本FT检测到EGFR突变，但使用液体样本（2例胸腔积液和1例脑脊液样本）未检测到EGFR突变的病例。由于FT可能无法检测液体样本中的EGFR突变，因此我们使用更灵敏的PT来验证使用相同液体样本的EGFR突变的存在。正如预期的那样，PT在液体样本中检测到的EGFR突变与FT在FFPE原发性肿瘤组织样本中检测到的相同。
Because epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) are effective in the treatment of non-small cell lung cancer (NSCLC) patients withEGFRmutations, it is critical to obtain accurateEGFRmutation test results. For NSCLC patients,EGFRmutation testing is performed using the commercial CobasEGFRMutation test v2.0, which can be used to analyze both formalin-fixed, paraffin-embedded (FFPE) tissue (FFPE test, or FT) and plasma samples (plasma test, or PT). Since primary tumor tissues are often unavailable from relapsed patients, fluid samples are often used forEGFRmutation testing, but they are often tested using the FT. Here, we report three cases in whichEGFRmutations were detected using the FT with FFPE primary tumor tissue samples, but were not detected using fluid samples (two pleural effusion and one cerebrospinal fluid sample). Because the FT may not be capable of detectingEGFRmutations in fluid samples, we used the PT, which is more sensitive, to verify the presence ofEGFRmutations using the same fluid samples. As expected, the PT detected the sameEGFRmutations in fluid samples as the FT did in FFPE primary tumor tissue samples.