A new study authored by Foundation Medicine scientists was published in the journal, The Oncologist, and provides clinical evidence that nearly all advanced esophageal cancers harbor genomic mutations that can be targeted with current or emerging drug therapies.

Researchers at Foundation Medicine performed comprehensive genomic profiling on 302 esophageal tumor samples from patients whose cancers fell into one of the two main subtype categories: 71 with advanced esophageal squamous cell carcinomas (ESCCs) and 231 with advanced esophageal adenocarcinomas (EACs). The mutations profiled varied substantially between the cancer subtypes, which make up 95 percent of all patient cases, suggesting important differences in their underlying pathology and in the potential role of targeted therapies.

Comprehensive genomic profiling using FoundationOne revealed 1,825 total genomic alterations (GAs), with 100% of tumors testing positive for at least one mutation. Of these, the frequency of clinically relevant GAs was high in both groups. An average of 2.6 drug-targetable alterations were identified per ESCC tumor and an average of 2.7 drug-targetable alterations were identified per EAC tumor. The most common clinically relevant genomic alterations in patients with ESCC were PIK3CA (24%), NOTCH1 (17%), and PTEN (11%). By comparison, EAC tumors were more likely to test positive for mutations in KRAS (23%), ERBB2 (23%), and EGFR (15%).

The range of targeted therapies has increased exponentially as the perceptions regarding traditional cancer care continue to evolve. Through comprehensive genomic profiling, we have the ability to better understand the molecular make-up of a patient’s cancer, thus matching them with existing targeted therapies and/or relevant clinical trials, while simultaneously informing the drug development community of genomic alterations that may be worth exploring for new therapeutic options. Read the full study from The Oncologist here.