采用液滴数字 PCR 检测痰标本中肺腺癌的 EGFR 突变。

Detection of EGFR mutation of pulmonary adenocarcinoma in sputum using droplet digital PCR.

机构信息

Department of Thoracic Surgery, Kanagawa Cancer Center, 2-3-2 Nakao, Asahi, Yokohama, Kanagawa, 241-8515, Japan.

Department of Surgery, Yokohama City University, 3-9 Fukuura, Kanazawa, Yokohama, Kanagawa, 236-0004, Japan.

出版信息

BMC Pulm Med. 2021 Mar 23;21(1):100. doi: 10.1186/s12890-021-01468-9.

DOI:10.1186/s12890-021-01468-9

PMID:33757469

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7988937/

Abstract

BACKGROUND

It is still unclear whether epidermal growth factor receptor (EGFR) mutation of primary lung adenocarcinoma can be detected on sputum samples. This study aimed to examine EGFR mutations of primary lung adenocarcinoma in sputum samples using droplet digital polymerase chain reaction (ddPCR) and compare it with an EGFR mutation in surgically resected lung cancer.

METHODS

Sputum was prospectively collected from the patients before complete resection of the primary lung cancer at Kanagawa Cancer Center from September 2014 to May 2016. ddPCR was performed to detect EGFR exon 21 L858R point mutation (Ex21) and EGFR exon 19 deletion mutation (Ex19) in sputum samples from patients with lung adenocarcinoma. The concordance of EGFR mutation status in sputum samples and tumors in surgically resected specimen was evaluated for each positive and negative cytology group.

RESULTS

One hundred and eighteen patients with primary lung adenocarcinoma provided sputum samples. Sputum cytology was positive in 13 patients (11.0%). ddPCR detected two cases of Ex21 and two cases of Ex19 in sputum cytology positive cases. Compared to surgically resected specimens, the sensitivity, specificity, and positive predictive value of EGFR mutation (Ex19 and Ex21) detection were 80.0%, 100%, and 100%, respectively, in sputum cytology positive cases. In contrast, the sensitivity, specificity, and positive predictive value of EGFR mutation (Ex19 and Ex21) detection were 3.1%, 100%, and 100%, respectively, in sputum cytology negative cases.

CONCLUSIONS

EGFR mutations in primary lung adenocarcinoma can be detected with high sensitivity in sputum samples if sputum cytology is positive.

摘要

背景

原发性肺腺癌的表皮生长因子受体（EGFR）突变能否在痰标本中检测到仍不清楚。本研究旨在使用液滴数字聚合酶链反应（ddPCR）检测原发性肺腺癌痰标本中的 EGFR 突变，并与手术切除的肺癌中的 EGFR 突变进行比较。

方法

2014 年 9 月至 2016 年 5 月，神奈川癌症中心前瞻性地从原发性肺癌完全切除前的患者中收集痰标本。使用 ddPCR 检测肺腺癌患者痰标本中 EGFR 外显子 21 L858R 点突变（Ex21）和 EGFR 外显子 19 缺失突变（Ex19）。评估了每个细胞学阳性和阴性组中痰标本和手术切除标本中 EGFR 突变状态的一致性。

结果

118 例原发性肺腺癌患者提供了痰标本。13 例（11.0%）痰细胞学阳性。ddPCR 在痰细胞学阳性病例中检测到 2 例 Ex21 和 2 例 Ex19。与手术切除标本相比，在痰细胞学阳性病例中，EGFR 突变（Ex19 和 Ex21）检测的敏感性、特异性和阳性预测值分别为 80.0%、100%和 100%。相比之下，在痰细胞学阴性病例中，EGFR 突变（Ex19 和 Ex21）检测的敏感性、特异性和阳性预测值分别为 3.1%、100%和 100%。