Kang Yoon Kyung, Shin Dong Hoon, Park Joon Young, Hwang Chung Su, Lee Hyun Jung, Lee Jung Hee, Kim Jee Yeon, Na JooYoung
Department of Pathology, Pusan National University School of Medicine, Yangsan, Korea.
Department of Forensic Medicine, Pusan National University School of Medicine, Yangsan, Korea.
J Pathol Transl Med. 2025 Jan;59(1):60-67. doi: 10.4132/jptm.2024.10.01. Epub 2025 Jan 15.
Epidermal growth factor receptor (EGFR) gene mutation testing is crucial for the administration of tyrosine kinase inhibitors to treat non-small cell lung cancer. In addition to traditional tissue-based tests, liquid biopsies using plasma are increasingly utilized, particularly for detecting T790M mutations. This study compared tissue- and plasma-based EGFR testing methods.
A total of 248 patients were tested for EGFR mutations using tissue and plasma samples from 2018 to 2023 at Pusan National University Yangsan Hospital. Tissue tests were performed using PANAmutyper, and plasma tests were performed using the Cobas EGFR Mutation Test v2.
All 248 patients underwent tissue-based EGFR testing, and 245 (98.8%) showed positive results. Of the 408 plasma tests, 237 (58.1%) were positive. For the T790M mutation, tissue biopsies were performed 87 times in 69 patients, and 30 positive cases (38.6%) were detected. Plasma testing for the T790M mutation was conducted 333 times in 207 patients, yielding 62 positive results (18.6%). Of these, 57 (27.5%) were confirmed to have the mutation via plasma testing. Combined tissue and plasma tests for the T790M mutation were positive in nine patients (13.4%), while 17 (25.4%) were positive in tissue only and 12 (17.9%) in plasma only. This mutation was not detected in 28 patients (43.3%).
Although the tissue- and plasma-based tests showed a sensitivity of 37.3% and 32.8%, respectively, combined testing increased the detection rate to 56.7%. Thus, neither test demonstrated superiority, rather, they were complementary.
表皮生长因子受体（EGFR）基因突变检测对于使用酪氨酸激酶抑制剂治疗非小细胞肺癌至关重要。除了传统的基于组织的检测外，越来越多地使用血浆进行液体活检，特别是用于检测T790M突变。本研究比较了基于组织和血浆的EGFR检测方法。
2018年至2023年期间，釜山国立大学梁山医院共对248例患者的组织和血浆样本进行了EGFR突变检测。组织检测使用PANAmutyper进行，血浆检测使用Cobas EGFR Mutation Test v2进行。
所有248例患者均接受了基于组织的EGFR检测，其中245例（98.8%）结果为阳性。在408次血浆检测中，237例（58.1%）为阳性。对于T790M突变，69例患者进行了87次组织活检，检测到30例阳性病例（38.6%）。207例患者进行了333次T790M突变的血浆检测，产生62例阳性结果（18.6%）。其中，57例（27.5%）通过血浆检测确诊为该突变。T790M突变的组织和血浆联合检测在9例患者中呈阳性（13.4%），仅组织阳性17例（25.4%），仅血浆阳性12例（17.9%）。28例患者（43.3%）未检测到该突变。
虽然基于组织和血浆的检测敏感性分别为37.3%和32.8%，但联合检测将检出率提高到了56.7%。因此，两种检测方法均未显示出优越性，而是具有互补性。
