A study in the July 2004 issue of the medical journal Cancer Cell provides scientists with new insights into a rare genetic disorder known as Peutz-Jeghers Syndrome (PJS), and suggests that a class of drugs called mTOR inhibitors may be useful for the treatment of the condition, which has been linked to cancers of the gastrointestinal tract, lung, breast, uterus and ovaries. Caused by a mutation that inactivates the tumor suppressor gene, LKB1, PJS is characterized by the development of pigmented spots on the skin and the formation of gastrointestinal polyps.
"There is a 30 to 50 percent chance that these polyps will become malignant and lead to patients developing cancer," explains senior author Lewis Cantley, PhD, chief of the Division of Signal Transduction at Beth Israel Deaconess Medical Center (BIDMC) and a member of the Department of Systems Biology at Harvard Medical School.
Earlier research conducted by Cantleys laboratory on two other genetic conditions with symptoms similar to PJS – Cowdens syndrome and tuberous sclerosis – had found that the diseases involved defects in the regulation of a protein called mTOR (mammalian target of rapamycin). The researchers, therefore, decided to look for a link between LKB1 and mTOR.
Bonnie Prescott | EurekAlert!
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