Study Evaluates Risk of Small Intestine Cancer in Lynch Syndrome
May 26th, 2008 by admin
According to the results of a study published in the journal Gut, the lifetime risk of small intestine cancer among individuals with Lynch Syndrome is roughly 4%.
Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), results from inherited mutations in genes involved in DNA mismatch repair. These mutations greatly increase the risk of developing colorectal cancer, and also increase the risk of several other cancers, such as cancers of the endometrium (the lining of the uterus), ovary, small intestine, ureter, and renal pelvis.
The small intestine is the part of the digestive system that extends from the stomach to the large intestine. Cancer of the small intestine is relatively rare in the general population. There will be an estimated 5,640 new cases in the
To evaluate the lifetime risk of small intestine cancer among those with Lynch Syndrome, researchers in the
— 28 cases of small intestine cancer were identified. Age at diagnosis of small intestine cancer ranged from 23 to 69 years, with a median age at diagnosis of 52 years.
— The lifetime risk of developing small intestine cancer was 4.2%. Risk was similar among men and women and did not vary significantly by history of colorectal cancer or family history of small intestine cancer.
— Information about presenting symptoms was available for 16 of the 28 patients with small intestine cancer. In nine cases, the patient presented with unexplained anemia. Six patients presented with small bowel obstruction and five patients reported abdominal pain. Jaundice, gastrointestinal bleeding, and weight loss were each reported by one patient.
This study suggests that roughly one out of 25 individuals with Lynch Syndrome will develop small intestine cancer during their lifetime. The researchers conclude that this risk may be too low to warrant routine use of invasive screening tests for small intestine cancer, such as double balloon enteroscopy.
Because the risk of small intestine cancer is higher among individuals with Lynch Syndrome than among the general population, however, the researchers note that small intestine cancer should be considered among individuals with Lynch Syndrome who experience unexplained abdominal complaints and/or unexplained iron-deficiency anemia.
References:
National Cancer Institute. Genetics of Colorectal Cancer (PDQ®). Health Professional Version. (Accessed September 19, 2007).
American Cancer Society. Cancer Fact & Figures 2007. Available at: (Accessed September 19, 2007).
Ten Kate GL, Kleibeuker JH, Nagengast FM et al. Is surveillance of the small bowel indicated for Lynch Syndrome families. Gut. 2007;56:1198-1201.
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