Journal of Shandong University (Health Sciences) ›› 2019, Vol. 57 ›› Issue (7): 80-85.doi: 10.6040/j.issn.1671-7554.0.2019.650

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Exploring molecular characteristics of esophageal squamous cell carcinoma based on next-generation sequencing

FENG Alei1, DONG Qing1, PANG Jiaohui2, YIN Jiani2, LI Qiang1, HAN Junqing1, YANG Zhe1   

  1. 1. Tumor Research and Therapy Center, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, Shandong, China;
    2. Nanjing Geneseeq Techonlogy Inc., Nanjing 210032, Jiangsu, China
  • Published:2022-09-27

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Abstract: Objective To explore the potential molecular targets and gene mutation characteristics in esophageal squamous cell carcinoma(ESCC)by using next-generation sequencing. Methods DNA was extracted from tissue samples collected from 49 ESCC patients. The 416 cancer-relevant genes were sequenced with Illumina HiSeq4000 platform. The sequencing data were then subjected to bioinformatics analysis. Results TP53 was identified as the most frequently mutated gene, and multiple potential therapeutic targets were revealed. The mutation rate and amplification rate of EGFR 19del mutations were both 4.08%, while no EGFR L858R mutation or KRAS mutation was detected. The amplification rate of HER2 and MET were both 2.04%. The inactivating mutation rate of BRCA1/2 was 8.06%. The positive rate of MSI was 4.76%, indicating that ESCC patients with related target gene variations would potentially benefit from targeted therapies or immunotherapies. Conclusion Multiple potential therapeutic targets in ESCC are identified using next-generation sequencing, which can significantly guide personalized ESCC treatment.

Key words: Esophageal squamous cell carcinoma, Next-generation sequencing, Gene mutation, Targeted therapy

CLC Number: 

  • R574
[1] Kang X, Chen K, Li Y, et al. Personalized targeted therapy for esophageal squamous cell carcinoma[J]. World J Gastroenterol, 2015, 21(25): 7648-7658.
[2] Chen W, Zheng R, Baade PD, et al. Cancer statistics in China, 2015[J]. CA Cancer J Clin, 2016, 66(2): 115-132.
[3] Chen XX, Zhong Q, Liu Y, et al. Genomic comparison of esophageal squamous cell carcinoma and its precursor lesions by multi-region whole-exome sequencing[J]. Nat Commun, 2017, 8(1): 524.
[4] Chen J, Kwong DL, Cao T, et al. Esophageal squamous cell carcinoma(ESCC): advance in genomics and molecular genetics[J]. Dis Esophagus, 2015, 28(1): 84-89.
[5] Cerami E, Gao J, Dogrusoz U, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data[J]. Cancer Discov, 2012, 2(5): 401-404.
[6] Gao J, Aksoy BA, Dogrusoz U, et al. Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal[J]. Sci Signal, 2013, 6(269): pl1.
[7] Zhou C. Lung cancer molecular epidemiology in China: recent trends[J]. Transl Lung Cancer Res, 2014, 3(5): 270-279.
[8] Guo K, Wang WP, Jiang T, et al. Assessment of epidermal growth factor receptor mutation/copy number and K-ras mutation in esophageal cancer[J]. J Thorac Dis, 2016, 8(7): 1753-1763.
[9] Huang J, Fan Q, Lu P, et al. Icotinib in patients with pretreated advanced esophageal squamous cell carcinoma with EGFR overexpression or EGFR gene amplification: a single-arm, multicenter phase 2 study[J]. J Thorac Oncol, 2016, 11(6): 910-917.
[10] Petty RD, Dahle-Smith A, Miedzybrodzka Z, et al. Epidermal growth factor receptor copy number gain(EGFR CNG)and response to gefitinib in esophageal cancer(EC): Results of a biomarker analysis of a phase Ill trial of gefitinib versus placebo(TRANS-COG)[J]. J Clin Oncol, 2014, 32(15):4016.
[11] Perez EA, Romond EH, Suman VJ. et al. Trastuzumab plus adjuvant chemotherapy for human epidermal growth factor receptor 2-positive breast cancer: planned joint analysis of overall survival from NSABP B-31 and NCCTG N9831[J]. J Clin Oncol, 2014, 32(33):3744-3752.
[12] Kawakami H, Okamoto I, Okamoto W, et al. Targeting MET amplification as a new oncogenic driver[J]. Cancers(Basel), 2014, 6(3): 1540-1552.
[13] Ozawa Y, Nakamura Y, Fujishima F, et al. c-Met in esophageal squamous cell carcinoma: an independent prognostic factor and potential therapeutic target[J]. BMC cancer, 2015, 15(1): 451.
[14] Zhu Y, Wu J, Zhang C, et al. BRCA mutations and survival in breast cancer: an updated systematic review and meta-analysis[J]. Oncotarget, 2016, 7(43): 70113-70127.
[15] Pujade-Lauraine E, Ledermann JA, Selle F, et al. Olaparib tablets as maintenance therapy in patients with platinum-sensitive, relapsed ovarian cancer and a BRCA1/2 mutation(SOLO2/ENGOT-Ov21): a double-blind, randomised, placebo-controlled, phase 3 trial[J]. Lancet Oncol, 2017, 18(9): 1274-1284.
[16] Coleman RL, Oza AM, Lorusso D, et al. Rucaparib maintenance treatment for recurrent ovarian carcinoma after response to platinum therapy(ARIEL3): a randomised, double-blind, placebo-controlled, phase 3 trial[J]. Lancet, 2017, 390(10106): 1949-1961.
[17] Mirza MR, Monk BJ, Herrstedt J, et al. Niraparib maintenance therapy in platinum-sensitive, recurrent ovarian cancer[J]. N Engl J Med, 2016, 375(22): 2154-2164.
[18] Robson M, Im S A, Senkus E, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation[J]. N Engl J Med, 2017, 377(6): 523-533.
[19] Litton JK, Rugo HS, Ettl J, et al. Talazoparib in patients with advanced breast cancer and a germline BRCA mutation[J]. N Engl J Med, 2018, 379(8): 753-763.
[20] Overman MJ, Lonardi S, Wong KYM, et al. Durable clinical benefit with nivolumab plus ipilimumab in DNA mismatch repair-deficient/microsatellite instability-high metastatic colorectal cancer[J]. J Clin Oncol, 2018, 36(8): 773-779.
[21] Le DT, Durham JN, Smith KN, et al. Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade[J]. Science, 2017, 357(6349): 409-413.
[22] Kudo T, Hamamoto Y, Kato K, et al. Nivolumab treatment for oesophageal squamous-cell carcinoma: an open-label, multicentre, phase 2 trial[J]. Lancet Oncol, 2017, 18(5): 631-639.
[23] Shah MA, Kojima T, Hochhauser D, et al. Efficacy and Safety of Pembrolizumab for Heavily Pretreated Patients With Advanced, Metastatic Adenocarcinoma or Squamous Cell Carcinoma of the Esophagus: The Phase 2 KEYNOTE-180 Study[J]. JAMA oncol, 2018.
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