The diagnostic value of comprehensive next-generation sequencing for genetic mutations in suspected lung cancer cases with negative pathological cytology

Abstract

Introduction

In recent clinical practice, driver gene mutations have been tested using multiplex PCR or next-generation sequencing (NGS), which help determine treatment strategies for non-small cell lung cancer (NSCLC). We developed a new analysis system, the Mutation Investigator using Next-era Sequencer (MINtS), using NGS, which allows for the detection of gene mutations even in cytology specimens with low tumor cell content. Due to its high sensitivity, MINtS has the potential to detect gene mutations even in specimens that are pathologically negative for cancer. In the present study, we examined the utility of MINtS-based mutation detection in cytology-negative specimens.

Methods

We retrospectively analyzed the data of patients who were enrolled in the NEJ021A study, which was a prospective observational study investigating the performance of MINtS. Although NEJ021A was a multicenter study, we included only patients enrolled at Niigata University Medical and Dental Hospital.

Results

Cytology specimens from 486 patients with suspected lung cancer were analyzed using MINtS. Among the cytology-positive cases, driver gene mutations were detected in 37.3 % (93/249) of patients, whereas in cytology-negative cases, driver gene mutations were detected in 20.2 % (47/233) of patients using MINtS. Of the 47 patients whose specimens were cytology-negative and MINtS-positive, 42 were histologically or clinically diagnosed with NSCLC and received treatment.

Conclusions

Even in patients without a pathological diagnosis of lung cancer, MINtS can identify driver gene mutations, which can be useful for guiding subsequent treatment decisions.