Vanderbilt-Ingram Cancer Center scientists have identified the first drug therapy that appears to be effective in reversing the "miserable" symptoms of a rare, premalignant stomach disorder.
They describe the effective treatment of a Texas man's Mntrier's disease in the Dec. 7 issue of the New England Journal of Medicine. This report culminates 10 years of basic research into the role in the stomach of the epidermal growth factor receptor and one of the factors that binds to it, transforming growth factor-alpha (TGFa). It also opens new avenues for additional research to better understand the biochemical pathways involved in this disease as well as stomach and other cancers.
"This really takes us from bench to bedside and back," said the principal investigator, Dr. Robert Coffey, Ingram Professor of Cancer Research. "It's very gratifying to have worked in an area for more than 10 years, plugging along, and then be able to implicate a pathway that is important in the pathogenesis of a human disease."
First described in 1888, Mntrier's disease is quite rare. Only 300 cases of what Coffey describes as a "fascinating disease" have been described in the scientific literature, he said. However, Coffey noted that the study of rare diseases often has broader implications. He cited retinoblastoma as an example: the study of this rare disease in children led to the identification of tumor suppressor genes and the "two-hit hypothesis" - the idea that it requires the functional loss of both copies of such a gene to prompt cancer development.
"From rare diseases, we often gain important insight into more common diseases," he said.
Mntrier's disease develops later in life, often when patients are in their 50s or 60s. Characteristics of Mntrier's disease include a thickening of the stomach lining and a complete absence of the parietal cells that produce stomach acid. The gastric juice is typically full of mucous, and protein leaks through the stoma
Contact: Cynthia Manley
Vanderbilt University Medical Center