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
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