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Updated: Jun 13, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
NFE2L2 gene mutation in male Japanese squamous cell carcinoma of the lung
Hidefumi Sasaki1, Yu Hikosaka, Katsuhiro Okuda
1Department of Oncology, Immunology, and Surgery, Nagoya City University Graduate School of Medical Sciences, Mizuho-ku, Nagoya, Japan. hisasaki @med.nagoya-cu.ac.jp
Introduction:
Recently, the nuclear factor (erythroid derived 2)-like 2 (NFE2L2) gene mutations were identified in lung cancer. The constitutive activation of NFE2L2 in lung cancer cells promotes tumorigenicity. However, the correlation between NFE2L2 mutation status and clinicopathologic features of lung cancer has not been well characterized.
Methods:
We have investigated NFE2L2 gene mutation status in 263 surgically treated lung cancer cases at Nagoya City University Hospital. The NFE2L2 mutation was analyzed by direct sequencing of cDNA.
Results:
We detected 13 cases (5.1%) of NFE2L2 mutation in our cohort; all were male and all had a squamous histology. EGFR mutations were present in 78 patients (30.8%). The NFE2L2 mutation was exclusive with EGFR mutations. The NFE2L2 mutation tended to be more frequently found in patients with advanced stages. The patients with NFE2L2 mutation (n = 13, 8 were dead) had significantly worse prognosis than the patient with wild type NFE2L2 (n = 250, 72 were dead) (Log-rank test, p = 0.0032, Breslow-Gehan-Wilcoxon test, p = 0.0028).
Conclusion:
NFE2L2 mutations might play a role in tumor prognosis of squamous cell carcinoma of the lung.
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