title: Mutations and expression of the NFE2L2/KEAP1/CUL3 pathway in Chinese patients with lung squamous cell carcinoma.
abstract: BACKGROUND
  Recent studies have reported an abnormally high alteration rate in the nuclear factor erythroid 2-like 2 (NFE2L2)/kelch-like ECH-associated protein 1 (KEAP1)/cullin 3 (CUL3) pathway. But the status of this pathway in Chinese patients with lung squamous cell carcinoma (SqCC) has not been thoroughly studied, and there are many uncertainties regarding the expression of pathway intermediates.
  
  
  METHODS
  cDNA sequencing and TaqMan qRT-PCR were carried out in paired cancer and adjacent normal samples obtained from 100 Chinese patients with lung SqCC. Immunohistochemical staining was performed in 50 other paraffin-embedded specimens.
  
  
  RESULTS
  We detected 47 mutations in 36 patients (36%), and 143 single nucleotide polymorphism (SNP) in 59 patients (59%), of which 41 mutations and 31 SNPs resulted in amino acid (AA) and possibly functional changes. By combining qRT-PCR and immunohistochemistry staining, we confirmed that the expression of NFE2L2 and KEAP1 were highly increased, while the expression of CUL3 was not significantly changed in lung SqCC samples from Chinese patients.
  
  
  CONCLUSIONS
  Considering the frequent mutations and abnormal expression, the NFE2L2/KEAP1/CUL3 pathway may play an important role in the therapy of Chinese patients with lung SqCC.
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Yongxing
authors: Y
authors: Zhang
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Hong
authors: H
authors: Fan
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Shuo
authors: S
authors: Fang
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Lin
authors: L
authors: Wang
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Li
authors: L
authors: Chen
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Yulin
authors: Y
authors: Jin
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Wei
authors: W
authors: Jiang
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Zongwu
authors: Z
authors: Lin
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Yu
authors: Y
authors: Shi
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Cheng
authors: C
authors: Zhan
authors: Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors: Qun
authors: Q
authors: Wang
keywords: Nuclear factor erythroid 2-like 2 (NFE2L2); cullin 3 (CUL3); kelch-like ECH-associated protein 1 (KEAP1); lung SqCC; mutation