Frequent acid reflux, if left untreated, damages esaphageal cells and may lead to Barrett’s esophagus, a potential precursor of esophageal cancer. However, most patients with Barrett’s esophagus will not progress to esophageal cancer.
According to a study published in Nature Genetics, the discovery of a gene mutation that marks the pathway from a relatively harmless esophageal condition to cancer can lead to the development of a diagnostic test for patients with Barrett’s esophagus.
Study author Rebecca Fitzgerald and researchers mapped out the genetic similarities and differences between patients with Barrett’s esophagus and patients with esophageal cancer. Through this process, researchers discovered mutations in the gene TP53.
They developed a sponge-on-a-string test, also called the Cytosponge test, in which a patient swallows a capsule attached to a piece of thread. Once the capsule reaches the stomach, it dissolves to reveal a sponge underneath. Then a nurse uses the string to pull the sponge out to collect cells from the esophagus.
Fitzgerald said she hopes the Cytosponge test will be routinely available in hospitals in the near future. This will allow patients to be diagnosed at early stages of the disease, where treatment has a greater chance of being effective. Currently, even Barrett’s esophagus is widely undiagnosed.
A new diagnostic test may be around the corner thanks to the discovery of a gene mutation that marks the progression from a harmless esophageal condition to cancer, according to research published in Nature Genetics. Over time, frequent acid reflux—often called heartburn—damages the cells in the esophagus.
Scientists funded by Cancer Research UK’s Catalyst Club, and working as part of the International Cancer Genome Consortium (ICGC), have identified the faults that signal the early onset of esophageal cancer.