Genomic analysis of oesophageal carcinoma (EC) to identify recurrent mutations in histone methyltransferases as a distinctive subset


Jingyuan Wang, Joanne Xiu, Matthew James Oberley, Francesca Battaglin, Hiroyuki Arai, Shivani Soni, Wu Zhang, Richard M. Goldberg, Anthony F. Shields, Axel Grothey, Jimmy J. Hwang, John Marshall, Igor A. Astsaturov, Benjamin Adam Weinberg, Emil Lou, Michael J. Hall, Rachna T. Shroff, Moh’d M. Khushman, Davendra Sohal, Heinz-Josef Lenz

Key Findings:

  • This is the largest study to date (787 samples) to investigate the distinct genomic landscapes between KMT2-MT and WT EC.
  • The study data showed that KMT2-MT EC has a distinctive genetic profile, indicated by higher TMB, and higher frequency of dMMR/MSI-H and gene mutations involved in DDR and epigenetic regulation.
  • Understanding these molecular characteristics may be informative in the development of effective treatment strategies in KMT2- MT EC.
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