SAN FRANCISCO—Comprehensive genomic profiling (CGP) shows significant promise in identifying clinically revelant genomic alterations (CRGA) in both advanced esophageal squamous cell carcinomas (ESCC) and esophageal adenocarcinoma (EAC) and has the potential to influence the use of clinical outcome altering targeted therapies in both types of cancer, a study (Abstract 7) presented this week at the 2015 Gastrointestinal Cancers Symposium has shown.

Although EAC is more common than ESCC, both are relatively rare cancers in the United States. Therefore, researchers sought compare the genomic profiles of ESCC and EAC in order to identify potential targets for drug therapy.

For the study, researchers extracted DNA from 54 patients with clinically advanced ESCC and 234 patients with EAC. They then used GCP to identify CRGA.

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Results showed that CRGA occurred in 93% of cases of ESCC and 92% of EAC, but EAC had more CRGA than ESCC. The CRGA more common in ESCC than EAC were PIK3CA, PTEN, and NOTCH1, and the CRGA more common in EAC than ESCC were KRAS and ERBB2.

In addition, researchers identified other genomic alterations that were significantly different between the two cancer types: SMAD4, RB1, SOX2, and NFE2L2, all of which were common in ESCC. Human papillomavirus (HPV)-16 and HPV-18 were also identified in 4% and 2% of ESCC, respectively.


  1. Wang K, Chmielecki J, Ali SM, et al. Comprehensive genomic profiling (CGP) of advanced stage esophageal squamous cell carcinomas (ESCC) and esophageal adenocarcinomas (EAC) to reveal similarities and differences. J Clin Oncol. 2015;33:(suppl 3; abstr 7).