Related Experiment Video
Updated: May 16, 2026
Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Importance of the cytological samples for the epidermal growth factor receptor gene mutation test for non-small cell
Koichi Hagiwara1, Kunihiko Kobayashi
1Department of Respiratory Medicine, Saitama Medical University, Saitama, Japan. hagiwark@saitama-med.ac.jp
Abstract:
Mutations in the epidermal growth factor receptor (EGFR) gene confer it with cancer driver gene functions in non-small cell lung cancer (NSCLC). Epidermal growth factor receptor -tyrosine kinase inhibitors are effective agents against NSCLC with a mutated EGFR gene. Accordingly, many guidelines recommend the use of an EGFR mutation test in NSCLC. However, not all patients are tested in most countries where tissue samples are mainly used for the test. As of 2011, most of the patients with advanced NSCLC are tested in Japan, and the use of cytological samples has significantly contributed to this success. A portion of samples used to determine a definite diagnosis of NSCLC, either tissue samples or cytological samples, is ensured to contain cancer cells, and is then investigated by an EGFR mutation test that is applicable to both tissue samples and cytological samples. Cytological samples now account for one-third of all the samples investigated. EGFR mutation is detected in cytological samples at a similar rate with tissue samples. The criterion ensuring an EGFR mutation test to have satisfactory sensitivity and specificity for use in both tissue and cytological samples is presented. Cytological samples are valuable clinical sources being collected less invasively than tissue samples, and should therefore be extensively used in EGFR mutation testing.
Insights
Cytological samples are valuable for epidermal growth factor receptor (EGFR) mutation testing in non-small cell lung cancer (NSCLC). This less invasive method yields results comparable to tissue samples, improving patient testing rates.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Epidermal growth factor receptor (EGFR) gene mutations drive non-small cell lung cancer (NSCLC) development.
- EGFR-tyrosine kinase inhibitors (TKIs) are effective treatments for NSCLC with EGFR mutations.
- Current guidelines recommend EGFR mutation testing for NSCLC patients.
Purpose of the Study:
- To evaluate the utility of cytological samples for EGFR mutation testing in NSCLC.
- To demonstrate the comparable efficacy of EGFR mutation detection in cytological versus tissue samples.
- To present criteria for ensuring accurate EGFR mutation test performance on cytological samples.
Main Methods:
- Analysis of EGFR mutation status in both tissue and cytological samples from NSCLC patients.
- Application of an EGFR mutation test validated for both sample types.
- Assessment of test sensitivity and specificity using cytological samples.
Main Results:
- Cytological samples accounted for one-third of all tested samples in Japan by 2011.
- EGFR mutation detection rates in cytological samples were similar to those in tissue samples.
- A criterion for satisfactory EGFR mutation test performance on cytological samples was established.
Conclusions:
- Cytological samples are a valuable and less invasive alternative to tissue samples for EGFR mutation testing in NSCLC.
- Increased utilization of cytological samples can improve EGFR mutation testing rates for NSCLC patients.
- Standardized testing criteria ensure reliable results from cytological samples.
