Three families with a rare, hereditary condition that eventually erupts into esophageal cancer share something else--a defective gene--that could lead to better treatments for the particularly nasty disease, scientists have determined.
Professor David Kelsell of Queen Mary, University of London made the discovery, working with colleagues from the University of Dundee and the University of Liverpool. (The University of London promoted the finding.)
Kelsell's research subjects all suffer from tylosis with esophageal cancer. This rare genetic disorder causes too much skin to grow and thicken on the soles of the feet and palms, according to the MD Anderson Cancer Center. Patients also develop white patches in their mouths and face a 95% likelihood of developing esophageal cancer by the time they're 65, the researchers note.
Beyond the condition itself, it turns out that each of the patients also displayed a flawed version of RHBDF2. When functioning normally, the gene cues how skin cells and cells that line the esophagus respond to injury, the researchers figured out. But the patients' defective version of the gene led to uncontrolled cell division--the excessive skin, etc.--and the eventual esophageal cancer.
The finding is promising, but there are huge steps to take before putting it to use. More research must be done to determine if the gene also affects the far wider swath of patients who contract esophageal cancer but don't have tylosis. Kelsell and the others believe that they might also carry the same defective gene, but we'll have to see, won't we? And the general population of esophageal cancer patients may have inconsistent genetic abnormalities that make treatment possible, but certainly more complex.
- here's the release