Best way to screen for Lynch syndrome in women with endometrial cancer identified

NEW YORK (Reuters Health) - Screening for Lynch syndrome in women with endometrial cancer and one first-degree relative who had a Lynch-associated cancer is cost-effective, according to a new study.

"The lifetime risk of endometrial cancer among women with Lynch syndrome may be as high as 60%," write researchers online ahead of print in the Journal of Clinical Oncology on May 2.

Because endometrial cancers associated with Lynch syndrome most likely present at an earlier age than colorectal cancer -- which is also commonly associated with the syndrome -- screening in these women could provide benefit and help extend overall life expectancy.

Testing all women with endometrial cancer would carry substantial costs, so researchers led by Dr. Janice Kwon, of the University of British Columbia and the British Columbia Cancer Agency in Vancouver, performed a cost-benefit analysis to determine the ideal screening criteria.

The study, which used a statistical simulation model, compared six criteria for Lynch syndrome testing:

-- Amsterdam II criteria (patient must have at least two relatives with Lynch syndrome-associated cancer within two successive generations, with one diagnosed before the age of 50 years);

-- endometrial cancer diagnosed at younger than 50 years of age and at least one affected first-degree relative;

-- endometrial cancer diagnosed at younger than 50 years of age;

-- endometrial cancer diagnosed at younger than 60 years of age;

-- the cancer diagnosed at any age but with at least one affected first-degree relative;

-- all endometrial cancers diagnosed at any age.

The simulation showed that though life expectancy is highest when the broadest testing strategy - all endometrial cancer, at any age - is used, the incremental cost-effectiveness ratio was unfavorable, at $648,494 per year of life gained.

In contrast, testing women with endometrial cancer at any age if the patient has at least one affected first-degree relative provided an incremental cost-effectiveness ratio of $9,126 per year of life gained. No other strategy could compete.

"In the United States there will be approximately 45,000 women diagnosed with endometrial cancer in the year 2010," the investigators say. A total of 827 women (1.84%) would be identified as having Lynch syndrome if all were screened, while applying the strategy that had the most favorable incremental cost-effectiveness ratio would identify 755 of those. Using the currently recommended Amsterdam II criteria would yield only 539 of them.

"The proportion of women with endometrial cancer and Lynch syndrome who fulfill Amsterdam II criteria may be as low as 30%," Dr. Kwon's group writes. "In contrast, the proportion of women with endometrial cancer and Lynch syndrome who have at least 1 (first-degree relative) with a Lynch-associated cancer may be as high as 80% to 100%. These women should be triaged with (immunohistochemistry), then offered the opportunity to undergo genetic counseling and testing."

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