Feasibility and application of small volume nucleic acid sample to detect the EGFR mutation in peripheral blood from patients with advanced non-small cell lung cancer

doi:10.3877/cma.j.issn.2095-5820.2021.03.008

Abstract

Abstract:

Objective

To evaluate a convenient method for detecting EGFR mutations with small volume of nucleic acid samples.

Methods

A new ctDNA (circulate tumor DNA) detection kit was used to detect and analyze the remaining clinical samples with a total of 94 samples, and the sample amount was 1/9 of the clinical sample size. In addition, 46 samples with positive EGFR mutation in clinical detection (ARMS method) were randomly selected, and the remaining clinical samples were taken for DNA co-locus detection, so as to study the consistency between the detection results and the clinical results. The inconsistent results were verified by SuperARMS method.

Results

Compared with the results of ARMS test, the total coincidence rate was 93.6% (88/94), the positive coincidence rate was 82.1% (23/28) and the negative coincidence rate was 98.7% (65/66). In 46 EGFR mutation positive samples, the coincidence rate of the two methods was 97.8%.

Conclusions

The new ctDNA detection kit has a high consistency with ARMS method, which suggests that the new ctDNA detection for EGFR mutations is potentially feasible in the case of a small sample size.

Key words: Non-small cell lung cancer, Gene mutation, Plasma ctDNA, EGFR, Small volume DNA sample

Yunjian Xu, Jianping Wang, Yongping Lin, Juhong Jiang. Feasibility and application of small volume nucleic acid sample to detect the EGFR mutation in peripheral blood from patients with advanced non-small cell lung cancer[J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2021, 09(03): 164-168.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhlcsysgldzzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-5820.2021.03.008

https://zhlcsysgldzzz.cma-cmc.com.cn/EN/Y2021/V09/I03/164

Figures/Tables 5

References 13

1	Ettinger DS, Wood DE, Aggarwal C, et al. NCCN Guidelines Insights: Non-Small Cell Lung Cancer[J]. J Natl Compr Canc Netw, 2019, 17(12):1464-1472.
2	Lee DH. Treatments for EGFR-mutant non-small cell lung cancer (NSCLC): The road to a success, paved with failures[J]. Pharmacol Ther, 2017, 174:1-21.
3	Heidrich I, Ackar L, Mossahebi Mohammadi P, et al. Liquid biopsies: Potential and challenges[J]. Int J Cancer, 2021, 148(3):528-545.
4	中国非小细胞肺癌患者EGFR T790M基因突变检测专家组. 中国非小细胞肺癌患者EGFRT790M基因突变检测专家共识[J]. 中华医学杂志, 2018, 98(32):2544-2548.
5	Wu YL, Lee V, Liam CK, et al. Clinical utility of a blood-based EGFR mutation test in patients receiving first-line erlotinib therapy in the ENSURE, FASTACT-2, and ASPIRATION studies[J]. Lung Cancer, 2018, 126:1-8.
6	非小细胞肺癌血液EGFR基因突变检测中国专家组. 非小细胞肺癌血液EGFR基因突变检测中国专家共识[J]. 中华医学杂志, 2015, 46(95):3721-3726.
7	Oxnard GR, Hu Y, Mileham KF, et al. Assessment of Resistance Mechanisms and Clinical Implications in Patients With EGFR T790M-Positive Lung Cancer and Acquired Resistance to Osimertinib[J].JAMA Oncol, 2018, 4(11):1527-1534.
8	张萌, 孟昭婷, 张翠翠, 等. Super-ARMS法检测EGFR突变在NSCLC的临床应用[J]. 天津医科大学学报, 2021, 27(2):185-187, 203.
9	Liang Z, Cheng Y, Chen Y, et al. EGFR T790M ctDNA testing platforms and their role as companion diagnostics: Correlation with clinical outcomes to EGFR-TKIs[J]. Cancer Lett, 2017, 403:186-194.
10	Wu W, Cao Z, Zhang W, et al. Comparison of the Super ARMS and ARMS for detecting EGFR mutations in liquid-based cytology specimens from NSCLC patients[J]. Diagn Pathol, 2020, 15(1):9.
11	CaoZY, WuW, HouLK, et al. Comparison of epidermal growth factor receptor (EGFR) gene T790M mutation by droplet digital PCR and Super-ARMS PCR in plasma ctDNA samples of non-small cell lung cancer patients with the resistance to EGFR-tyrosine kinase inhibitor[J]. 中华病理学杂志, 2018, 47(12):910-914.
12	Zou B, Cao X, Wu H, et al. Sensitive and specific colorimetric DNA detection by invasive reaction coupled with nicking endonuclease-assisted nanoparticles amplification [J].Biosens Bioelectron, 2015, 66:50-54.
13	Zou B,Song Q, Wang J, et al. Invasive reaction assisted strand-displacement signal amplification for sensitive DNA detection[J]. Chem Commun (Camb), 2014, 50(89):13722-13724.

项目	n(例)	ARMS法检测		χ²值	P值
项目	n(例)	阳性例数	阳性率(%)	χ²值	P值
性别
男	76	30	39.5	6.3579	0.0117
女	64	39	60.1		0.0117
年龄(y)
＞60	79	33	41.7	4.0659	0.0438
≤60	61	36	59.0		0.0438
分期
Ⅲb 期	39	4	10.3	32.7106	0.0000
Ⅳ期	101	65	64.4
病理分型
腺癌	128	67	52.3	5.5872	0.0181
鳞癌	12	2	16.7

项目	n(例)	ARMS法检测		χ²值	P值
项目	n(例)	阳性例数	阳性率(%)	χ²值	P值
性别
男	76	30	39.5	6.3579	0.0117
女	64	39	60.1		0.0117
年龄(y)
＞60	79	33	41.7	4.0659	0.0438
≤60	61	36	59.0		0.0438
分期
Ⅲb 期	39	4	10.3	32.7106	0.0000
Ⅳ期	101	65	64.4
病理分型
腺癌	128	67	52.3	5.5872	0.0181
鳞癌	12	2	16.7

		ARMS法结果		合计
		阳性	阴性	合计
小体积DNA	阳性	23	1	24
样本法结果	阴性	5	65	70
合计		28	66	94

		ARMS法结果		合计
		阳性	阴性	合计
小体积DNA	阳性	23	1	24
样本法结果	阴性	5	65	70
合计		28	66	94

	19-del	L858R	20-ins	L861Q	19-del+ T790M	L858R+ T790M	合计
ARMS法	7	15	1	1	2	2	28
小体积DNA样本法	6	13	0	1	2	2	24

Please choose a citation manager

Content to export