TUESDAY, March 29, 2005 (HealthDay News) -- A gene mutation that causes three related kinds of bone marrow cancer has been identified by U.S. researchers, who used the Internet to collect blood and tissue samples from far-flung patients.
The discovery of this mutation in what's called a "tyrosine kinase" gene may help in the development of targeted, molecular therapies to treat these deadly myeloproliferative disorders (MPD), caused by an acquired mutation in blood cells. Scientists have spent decades searching for the cause of these diseases.
Currently, there is no effective treatment for MPDs.
In their study, researchers at Brigham and Women's Hospital and the Dana-Farber Cancer Institute, both in Boston, used the Internet to collect a large number of blood DNA samples and cheek tissue from patients with these bone marrow cancers.
First, the researchers distributed information about the study via the Web through a support group for MPD patients. Interested patients who mailed in a consent form were sent a kit for taking blood and cheek-swab samples at their next visit to the doctor. The completed kits were then mailed back to the researchers for analysis.
In less than a year, the researchers obtained samples from 345 people.
Rapid, large-scale DNA sequencing was used to search for mutations in tyrosine kinase genes, which act like on-off switches for cell growth. Tyrosine kinases have been shown to be stuck in the "on" position in a number of cancers.
"This discovery represents a tremendous step towards understanding the molecular pathophysiology of these diseases and developing a treatment for these cancers," study co-author Dr. D. Gary Gilliland, an oncology researcher at Brigham and Women's Hospital, said in a prepared statement.
The study appears in the April issue of the journal Cancer Cell.
More information
The U.S. National Cancer Institute has more about myeloproliferative disorders.
