A novel point mutation in exon 20 of EGFR showed sensitivity to erlotinib

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• 作者：Kailin Xing (1) (2)
  Xiaoyan Zhou (2) (3)
  Xinmin Zhao (1) (2)
  Si Sun (1) (2)
  Zhiguo Luo (1) (2)
  Huijie Wang (1) (2)
  Hui Yu (1) (2)
  Jialei Wang (1) (2)
  Jianhua Chang (1) (2)
  Xianghua Wu (1) (2)
  Aiqun Hu (4)
  
• 关键词：EGFR ; Exon 20 ; Mutation ; Non ; small cell lung cancer ; Tyrosine kinase inhibitors
• 刊名：Medical Oncology
• 出版年：2014
• 出版时间：July 2014
• 年：2014
• 卷：31
• 期：7
• 全文大小：
• 参考文献：1. da Cunha Santos G, Shepherd FA, Tsao MS. EGFR mutations and lung cancer. Annu Rev Pathol. 2011;6:49-9. CrossRef
  2. Zhou C, Wu Y-L, Chen G, Feng J, Liu X-Q, Wang C, et al. Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, phase 3 study. Lancet Oncol. 2011;12(8):735-2. CrossRef
  3. Rosell R, Carcereny E, Gervais R, Vergnenegre A, Massuti B, Felip E, et al. Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer (EURTAC): a multicentre, open-label, randomised phase 3 trial. Lancet Oncol. 2012;13(3):239-6. CrossRef
  4. Maemondo M, Inoue A, Kobayashi K, Sugawara S, Oizumi S, Isobe H, et al. Gefitinib or chemotherapy for non–small-cell lung cancer with mutated EGFR. N Engl J Med. 2010;362(25):2380-. CrossRef
  5. Mitsudomi T, Morita S, Yatabe Y, Negoro S, Okamoto I, Tsurutani J, et al. Gefitinib versus cisplatin plus docetaxel in patients with non-small-cell lung cancer harbouring mutations of the epidermal growth factor receptor (WJTOG3405): an open label, randomised phase 3 trial. Lancet Oncol. 2010;11(2):121-. CrossRef
  6. Mitsudomi T, Yatabe Y. Mutations of the epidermal growth factor receptor gene and related genes as determinants of epidermal growth factor receptor tyrosine kinase inhibitors sensitivity in lung cancer. Cancer Sci. 2007;98(12):1817-4. CrossRef
  7. Sharma SV, Bell DW, Settleman J, Haber DA. Epidermal growth factor receptor mutations in lung cancer. Nat Rev Cancer. 2007;7(3):169-1. CrossRef
  8. Chou T-Y, Chiu C-H, Li L-H, Hsiao C-Y, Tzen C-Y, Chang K-T, et al. Mutation in the tyrosine kinase domain of epidermal growth factor receptor is a predictive and prognostic factor for gefitinib treatment in patients with non-small cell lung cancer. Clin Cancer Res. 2005;11(10):3750-. CrossRef
  9. Wu J-Y, Yu C-J, Chang Y-C, Yang C-H, Shih J-Y, Yang P-C. Effectiveness of tyrosine kinase inhibitors on “Uncommon-epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer. Clin Cancer Res. 2011;17(11):3812-1. CrossRef
  10. Xu JM, Han Y, Duan HQ, Gao EM, Zhang Y, Liu XQ, et al. EGFR mutations and HER2/3 protein expression and clinical outcome in Chinese advanced non-small cell lung cancer patients treated with gefitinib. J Cancer Res Clin Oncol. 2009;135(6):771-2. CrossRef
  11. Herbst RS. Review of epidermal growth factor receptor biology. Int J Radiat Oncol Biol Phys. 2004;59(2):S21-. CrossRef
  12. Yasuda H, Kobayashi S, Costa DB. EGFR exon 20 insertion mutations in non-small-cell lung cancer: preclinical data and clinical implications. Lancet Oncol. 2012;13(1):e23-1. CrossRef
  13. Eck MJ, Yun C-H. Structural and mechanistic underpinnings of the differential drug sensitivity of EGFR mutations in non-small cell lung cancer. Biochim Biophys Acta. 2010;1804(3):559-6. CrossRef
  14. Asahina H, Yamazaki K, Kinoshita I, Yokouchi H, Dosaka-Akita H, Nishimura M. Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S768I and V769L. Lung Cancer. 2006;54(3):419-2. CrossRef
  15. Costa DB, Kobayashi S, Tenen DG, Huberman MS. Pooled analysis of the prospective trials of gefitinib monotherapy for EGFR-mutant non-small cell lung cancers. Lung Cancer. 2007;58(1):95-03. CrossRef
  16. Shigematsu H, Lin L, Takahashi T, Nomura M, Suzuki M, Wistuba II, et al. Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst. 2005;97(5):339-6. CrossRef
  17. Tokumo M, Toyooka S, Kiura K, Shigematsu H, Tomii K, Aoe M, et al. The relationship between epidermal growth factor receptor mutations and clinicopathologic features in non-small cell lung cancers. Clin Cancer Res. 2005;11(3):1167-3.
  18. Oxnard GR, Arcila ME, Sima CS, Riely GJ, Chmielecki J, Kris MG, et al. Acquired resistance to EGFR tyrosine kinase inhibitors in EGFR-mutant lung cancer: distinct natural history of patients with tumors harboring the T790M mutation. Clin Cancer Res. 2011;17(6):1616-2. CrossRef
  19. Murray S, Dahabreh IJ, Linardou H, Manoloukos M, Bafaloukos D, Kosmidis P. Somatic mutations of the tyrosine kinase domain of epidermal growth factor receptor and tyrosine kinase inhibitor response to TKIs in non-small cell lung cancer: an analytical database. J Thorac Oncol. 2008;3(8):832-. CrossRef
  20. Beau-Faller M, Prim N, Ruppert AM, et al. Rare EGFR exon 18 and exon 20 mutations in non-small-cell lung cancer on 10 117 patients: a multicentre observational study by the French ERMETIC-IFCT network. Ann Oncol. 2014;25(1):126-1. CrossRef
  
• 作者单位：Kailin Xing (1) (2)
  Xiaoyan Zhou (2) (3)
  Xinmin Zhao (1) (2)
  Si Sun (1) (2)
  Zhiguo Luo (1) (2)
  Huijie Wang (1) (2)
  Hui Yu (1) (2)
  Jialei Wang (1) (2)
  Jianhua Chang (1) (2)
  Xianghua Wu (1) (2)
  Aiqun Hu (4)
  
  1. Department of Medical Oncology, Fudan University Shanghai Cancer Center, 270 Dong-An Road, Shanghai, 200032, China
  2. Department of Oncology, Shanghai Medical College, Fudan University, 130 Dong-An Road, Shanghai, 200032, China
  3. Department of Pathology, Fudan University Shanghai Cancer Center, 270 Dong-An Road, Shanghai, 200032, China
  4. State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, No. 25/Ln2200 Xie-Tu Road, Shanghai, 200032, China
  
• ISSN：1559-131X

文摘

Mutations of epidermal growth factor receptor (EGFR) gene are good predictors of response to treatment with EGFR tyrosine kinase inhibitors (TKIs) for non-small cell lung cancer (NSCLC). It is well established that classic mutations, such as in-frame deletions in exon 19 and the point mutation L858R in exon 21, are associated with high sensitivity to EGFR TKIs. Though mutations in exon 20 are almost correlated with EGFR–TKIs resistance, the awareness that they might confer sensitivity to TKI treatment should be emphasized. Herein, we describe a novel mutation in exon 20 of EGFR in a Chinese male non-smoker, who was diagnosed with stage IV lung adenocarcinoma and characterized by the codon 769 point mutation GTG>GCG, which translates into alanine instead of valine (p.V769A). In this case, the patient showed a good clinical response to erlotinib after paclitaxel/cisplatin first-line and docetaxel second-line chemotherapies. Therefore, we suggest that this rare mutation (p.V769A) may be a sensitive EGFR mutation in NSCLC. The identification of novel EGFR mutations provides new predictive biomarkers for TKI treatment and is essential to the successful use of targeted therapies.