Mutation Discovery Could Improve Prognosis for Esophageal Cancer

According to a study published recently in Nature Genetics, researchers have found two genetic mutations that explain why some people with a certain complication of acid reflux end up developing esophageal cancer.

After comparing the DNA of patients with esophageal cancer and patients with Barrett’s esophagus, a disorder in which acid reflux damages the lining of the esophagus, scientists discovered that mutations in genes TP53 and SMAD4 showed which Barrett’s patients were developing esophageal cancer.

In order to gather cells from the esophagus, researchers gave patients the “cytosponge” test, in which they swallowed a capsule containing a sponge connected to a string. The capsule dissolves when it hits the stomach, and then a clinician pulls the sponge out by the thread, which allows it to gather the cells on the way out.

With this new information and genetic test, scientists hope to identify early signs of cancer in patients with Barrett’s esophagus. Esophageal cancer survival rates have increased over the past few decades, but the percentage still remains low. Today only 20 percent of patients survive at least five years after diagnosis, but rates improve when the disease is diagnosed early.