穿刺组织浸洗液在非小细胞肺癌的<italic style="font-style: italic">EGFR</italic>基因突变检测中的应用

熊慧; 全玮旎; 刘平; 吴元强; 邱振华; 向晓康; 颜苗; 马进安

doi:10.11817/j.issn.1672-7347.2026.250301

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论著 | 更新时间：2026-05-05

穿刺组织浸洗液在非小细胞肺癌的EGFR基因突变检测中的应用
Application of puncture tissue rinse solution in the detection of EGFR gene mutations in non-small cell lung cancer
中南大学学报(医学版) 中南大学学报(医学版) 2026年51卷第2期页码：266-276
作者机构：

1.中南大学湘雅二医院肿瘤科，长沙 410011
2.中南大学湘雅二医院药学部，长沙 410011
作者简介：

熊慧，Email: xh7902@163.com, ORCID: 0009-0008-7908-3772
全玮旎，Email: quanweini1123@163.com, ORCID: 0009-0001-0787-8102
马进安，主任医师，Email: majinancs@csu.edu.cn, ORCID: 0000-0002-9719-9348
基金信息：

湖南省自然科学基金(2020JJ4817┫。This work was supported by the Natural Science Foundation of Hunan Province;China ┣2020JJ4817)
DOI：10.11817/j.issn.1672-7347.2026.250301
中图分类号：
CSTR：
收稿：2025-06-04，

纸质出版：2026-02-28
稿件说明：

熊慧, 全玮旎, 刘平, 吴元强, 邱振华, 向晓康, 颜苗, 马进安. 穿刺组织浸洗液在非小细胞肺癌的EGFR基因突变检测中的应用[J]. 中南大学学报(医学版), 2026, 51(2): 266-276.

XIONG Hui, QUAN Weini, LIU Ping, WU Yuanqiang, QIU Zhenhua, XIANG Xiaokang, YAN Miao, MA Jin’an. Application of puncture tissue rinse solution in the detection of EGFR gene mutations in non-small cell lung cancer[J]. Journal of Central South University. Medical Science, 2026, 51(2): 266-276.
熊慧, 全玮旎, 刘平, 吴元强, 邱振华, 向晓康, 颜苗, 马进安. 穿刺组织浸洗液在非小细胞肺癌的EGFR基因突变检测中的应用[J]. 中南大学学报(医学版), 2026, 51(2): 266-276. DOI：10.11817/j.issn.1672-7347.2026.250301.

XIONG Hui, QUAN Weini, LIU Ping, WU Yuanqiang, QIU Zhenhua, XIANG Xiaokang, YAN Miao, MA Jin’an. Application of puncture tissue rinse solution in the detection of EGFR gene mutations in non-small cell lung cancer[J]. Journal of Central South University. Medical Science, 2026, 51(2): 266-276. DOI：10.11817/j.issn.1672-7347.2026.250301.

摘要

目的

非小细胞肺癌(non-small cell lung cancer，NSCLC)的精准靶向治疗需要基于基因突变的分子分型，尤其是包括表皮生长因子受体(epidermal growth factor recepto

r，

EGFR

)在内的驱动基因突变的检测，对于晚期和转移性NSCLC患者的治疗决策至关重要。目前临床核酸获取来源包括肿瘤组织石蜡标本、胸腔积液离心后的细胞学标本、血液、胸腔积液上清等体液中的游离DNA。本研究旨在采用肺穿刺活检组织的双蒸水浸洗液提取的核酸进行基因突变检测，验证该核酸来源的可行性，并分析其检测结果与基于穿刺活检组织的二代测序(next-generation sequencing，NGS)检测结果的一致性，为后续的病理诊断与治疗提供依据。

方法

纳入中南大学湘雅二医院肿瘤科收治的临床诊断为NSCLC的女性患者，在CT引导下经皮肺穿刺活检，活检组织通过石蜡包埋制作切片进行NGS检测；同时提取活检组织双蒸水浸洗液中的DNA，采用超扩增阻滞突变系统-聚合酶链式反应(super amplification refractory mutation system-polymerase chain reaction，Super-ARMS)法进行

EGFR

基因突变检测，DNA剩余量符合质控标准的组织标本进一步行NGS基因检测。比较穿刺活检组织双蒸水浸洗液的基因检测结果与相应石蜡切片标本的NGS基因检测结果的一致性。此外，分别测定经皮肺穿刺活检标本及穿刺针浸洗液的DNA含量，比较二者的差异。

结果

对于29例NSCLC患者，穿刺活检组织双蒸水浸洗液Super-ARMS法检测出

EGFR

基因突变阳性19例、阴性10例，组织石蜡样本NGS法检测出

EGFR

基因突变阳性20例、阴性9例。穿刺活检组织双蒸水浸洗液Super-ARMS法对比组织石蜡样本NGS法的敏感度为95%，特异度为100%，阳性预测值为100%，阴性预测值为90%，准确率为96.5%。6例穿刺活检组织双蒸水浸洗液经Super-ARMS法后的DNA符合质控标准，行NGS基因检测的结果显示

EGFR

基因突变阳性3例、阴性3例，与Super-ARMS法完全一致，与组织石蜡样本NGS检测结果相符。穿刺活检组织双蒸水浸洗液Super-ARMS法的

EGFR

基因检测需1~2 d，NGS检测需7 d，组织石蜡样本NGS检测需14~15 d。3例NSCLC穿刺组织双蒸水浸洗液与穿刺针浸洗液的DNA含量配对比较结果显示，组织浸洗液DNA含量高于穿刺针浸洗液DNA含量。

结论

CT引导下经皮肺穿刺活检标本的双蒸水浸洗液提取的DNA，可作为快速高效获得NSCLC基因分型的核酸标本来源，尽早为临床诊疗提供依据。

Abstract

Objective

Precision targeted therapy for non-small cell lung cancer (NSCLC) relies on molecular classification based on gene mutations. Detection of driver gene mutations

particularly epidermal growth factor receptor (EGFR) mutations

is crucial for treatment decision-making in locally advanced and metastatic NSCLC. Currently

clinical sources of nucleic acids include formalin-fixed paraffin-embedded (FFPE) tumor tissues

cytological specimens from centrifuged pleural effusion

blood

and circulating free DNA in body fluids such as pleural effusion supernatant. This study aims to extract nucleic acids from the double-distilled water rinse solution of lung biopsy specimens for gene mutation detection

to evaluate the feasibility of this nucleic acid source

and to analyze the concordance between its detection results and those obtained from tissue-based next-generation sequencing (NGS)

thereby providing a basis for subsequent pathological diagnosis and treatment.

Methods

Female patients clinically diagnosed with NSCLC and admitted to the Department of Oncology

the Second Xiangya Hospital of Central South University were included. CT-guided percutaneous lung biopsy was performed. Biopsy tissues were processed into paraffin-embedded sections for NGS testing. Meanwhile

DNA was extracted from the double-distilled water rinse solution of biopsy tissues

and EGFR gene mutations were detected using the super amplification refractory mutation system-polymerase chain reaction (Super-ARMS). Samples with remaining DNA meeting quality control standards were further subjected to NGS. The concordance between gene mutation results from the rinse solution and those from corresponding FFPE tissue samples was analyzed. In addition

DNA concentrations from percutaneous biopsy specimens and from the rinse solution of the puncture needle were measured and compared.

Results

Among 29 NSCLC patients

Super-ARMS of the biopsy tissue rinse solution detected 19

EGFR

mutation-positive cases and 10 negative cases

while NGS of FFPE tissue samples detected 20 positive cases and 9 negative cases. Compared with tissue NGS

the rinse solution Super-ARMS showed a sensitivity of 95%

specificity of 100%

positive predictive value of 100%

negative predictive value of 90%

and an overall accuracy of 96.5%. In 6 cases

DNA from the rinse solution met quality control standards after Super-ARMS and was further analyzed by NGS

showing 3

EGFR

mutation-positive and 3 negative cases. These results were completely consistent with those obtained by Super-ARMS and were concordant with tissue-based NGS results. The turnaround time for

EGFR

mutation d

etection using rinse solution Super-ARMS was 1-2 days

compared with 7 days for NGS using rinse solution DNA and 14-15 days for NGS using FFPE tissue samples. In 3 paired NSCLC samples

the DNA concentration of tissue rinse solution was higher than that of the puncture needle rinse solution.

Conclusion

TDNA extracted from the double-distilled water rinse solution of CT-guided percutaneous lung biopsy specimens can serve as a rapid and efficient nucleic acid source for NSCLC genotyping

enabling earlier support for clinical diagnosis and treatment.

关键词

Keywords

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Application of puncture tissue rinse solution in the detection of EGFR gene mutations in non-small cell lung cancer

DOI：10.11817/j.issn.1672-7347.2026.250301

摘要

Abstract

关键词

Keywords

references