title: NFE2L2 gene mutation in male Japanese squamous cell carcinoma of the lung.
abstract: BACKGROUND
  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).
  
  
  CONCLUSIONS
  NFE2L2 mutations might play a role in tumor prognosis of squamous cell carcinoma of the lung.
authors.affiliation: Department of Oncology, Immunology, and Surgery, Nagoya City University Graduate School of Medical Sciences, Mizuho-ku, Nagoya, Japan. hisasaki @med.nagoya-cu.ac.jp
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Sasaki
authors.forename: Yu
authors.initials: Y
authors.lastname: Hikosaka
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Okuda
authors.forename: Osamu
authors.initials: O
authors.lastname: Kawano
authors.forename: Satoru
authors.initials: S
authors.lastname: Moriyama
authors.forename: Motoki
authors.initials: M
authors.lastname: Yano
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Fujii
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000209:etiology / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D066246:ErbB Receptors / Q000235:genetics; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000209:etiology / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D051267:NF-E2-Related Factor 2 / Q000235:genetics*; D011379:Prognosis
chemical_list: D051267:NF-E2-Related Factor 2; C495635:NFE2L2 protein, human; D066246:ErbB Receptors