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Check colon tumors for signs of syndrome, study suggests

the mutation. "Those relatives do not require the intense cancer surveillance."

Lynch-syndrome mutations occur in about one person per thousand of the general population.

The study led by de la Chapelle involved 1,066 patients with newly diagnosed colorectal cancer from six hospitals in the Columbus, OH, metropolitan area. Tumor cells from each patient were tested for microsatellite instability (MSI), a hallmark of Lynch syndrome. MSI occurs in more than 90 percent of Lynch syndrome tumors.

To learn the frequency of Lynch syndrome generally, the researchers tested all the tumors for the presence of MSI. They also used an alternative method to prescreen for mutations known as immunohistochemistry. Of the 1,066 tumors tested, 208 showed MSI. Of these, 23 (2.2 percent of the total) had Lynch syndrome mutations. Five of the tumors came from patients that did not meet the usual criteria for diagnosing Lynch syndrome. That diagnosis is largely based on family history and age. Ordinarily, these five cases would have gone undiagnosed.

Furthermore, the 23 people with Lynch syndrome had 117 first-degree relatives who also may have inherited the mutations. The counseling and testing of these individuals revealed 52 people with undiagnosed Lynch syndrome; 65 of the people had no mutations.

"There are now 52 people who know they have Lynch syndrome because they had a relative in this study," says first author Heather Hampel, a genetic counselor with The James Cancer Hospital and Solove Research Institute.

"It's important that people who have this syndrome know they have it because there is a good chance we can prevent cancer from developing or at least detect it early when it is more easily treated."

The study also identified immunohistochemistry as an effective way to prescreen colon tumors for MSI, suggesting that Lynch syndrome mutations may be present. The method is less costly than the usua
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Contact: Darrell E. Ward
Ward-15@medctr.osu.edu
614-293-3737
Ohio State University
5-May-2005


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