SALT LAKE CITY— Inheriting a mutation in the APC gene leads to a nearly 100% lifetime risk of colorectal cancer. While colon cancer can be kept at bay by removing the large intestine, these patients also have up to a 15% risk of getting cancer in the small intestine, which is the leading cause of cancer death in this patient group. A new study published in the Journal of the American Medical Association (JAMA), has identified the first prevention treatment for these patients, a two-drug combination that significantly reduces the number and size of precancerous polyps in the small intestine.
Jewel Samadder, MD, is the lead researcher on the study from Huntsman Cancer Institute (HCI) at the Ï㽶ÊÓƵ of Utah. He says that medical and surgical management of these patients is difficult since it is hard to remove precancerous polyps in the small intestine and surgical removal of this region of the small, as well as the large intestine, means that patients have a hard time absorbing nutrients. "We have been left with very few, really no options to offer treatment."
Familial adenomatous polyposis (FAP) is an inherited disorder that occurs in 1 out of 10,000 people. It is caused by a mutation in the APC (adenomatous polyposis coli) gene that is inherited from one parent. Patients with FAP form hundreds to thousands of polyps in their large and small intestine. Many patients have their large intestine removed to prevent colon cancer, but for some patients with a large number of small intestine polyps, it is difficult to prevent cancer from occurring.