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Use of Electromagnetic Navigational Transthoracic Needle Aspiration (E-TTNA) for Sampling of Lung Nodules
Published on: May 23, 2015
Detection of epidermal growth factor receptor mutation in transbronchial needle aspirates of non-small cell lung
Atsushi Horiike1, Hideharu Kimura, Kazuto Nishio
1Thoracic Center, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan.
Background:
Somatic mutations of epidermal growth factor receptor (EGFR) are closely associated with an objective response to EGFR tyrosine kinase inhibitors. However, it is difficult to obtain sufficient tumor samples from patients with non-small cell lung cancer (NSCLC), so these diagnoses are often made using cytology procedures alone. The aim of this study was to detect EGFR mutations in transbronchial needle aspiration (TBNA) samples using both direct sequencing and a highly sensitive assay (Scorpions Amplified Refractory Mutation System; DxS; Manchester, UK) [ARMS], and to compare the sensitivity of these methods.
Methods:
We enrolled 94 patients (63 men and 31 women) with NSCLC in this study. Cytologic diagnoses were adenocarcinoma (n = 58), squamous cell carcinoma (n = 24), and other types of NSCLC (n = 12). We extracted DNA from the TBNA samples, and EGFR mutations were analyzed using both direct sequencing (exons 19 and 21) and the Scorpions ARMS method (E746 A750del and L858R).
Results:
Mutations were detected in 31 patients (33%; 14 women and 17 men). Of these, 23 patients had adenocarcinoma, 4 had squamous cell carcinoma, and 4 had other types of NSCLC. Direct sequencing detected 13 mutations (14%) in 13 patients (E746-A750del, n = 6; L858R, n = 7), and the Scorpions ARMS method detected 27 mutations (29%) in 27 patients (E746 A750del, n = 16; L858R, n = 11 patients).
Conclusions:
Both methods detected EGFR mutations in TBNA samples, but Scorpions ARMS is more sensitive than direct sequencing.
Insights
Detecting epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC) is crucial. The Scorpions Amplified Refractory Mutation System (ARMS) assay is more sensitive than direct sequencing for EGFR mutation detection in transbronchial needle aspiration (TBNA) samples.
Area of Science:
- Oncology
- Molecular Diagnostics
- Pulmonology
Background:
- Somatic mutations in epidermal growth factor receptor (EGFR) predict response to EGFR tyrosine kinase inhibitors in non-small cell lung cancer (NSCLC).
- Obtaining sufficient tumor tissue for molecular analysis can be challenging in NSCLC, often relying on cytology samples.
- Transbronchial needle aspiration (TBNA) is a minimally invasive procedure for obtaining samples for diagnosis.
Purpose of the Study:
- To evaluate the sensitivity of two methods for detecting EGFR mutations in TBNA samples from NSCLC patients.
- To compare direct sequencing with a highly sensitive assay, Scorpions Amplified Refractory Mutation System (ARMS), for EGFR mutation detection.
Main Methods:
- Ninety-four NSCLC patients were enrolled, with DNA extracted from TBNA samples.
- EGFR mutations in exons 19 and 21 were analyzed using both direct sequencing and the Scorpions ARMS method.
- Specific mutations analyzed included E746-A750del and L858R.
Main Results:
- EGFR mutations were detected in 33% (31/94) of patients.
- Direct sequencing identified 13 mutations (14%) in 13 patients.
- Scorpions ARMS detected 27 mutations (29%) in 27 patients, demonstrating higher sensitivity.
Conclusions:
- Both direct sequencing and Scorpions ARMS can detect EGFR mutations in TBNA samples.
- The Scorpions ARMS method exhibits superior sensitivity compared to direct sequencing for EGFR mutation analysis in NSCLC.
- This finding supports the use of highly sensitive assays for molecular profiling of NSCLC from limited cytology samples.