Cost-Effectiveness of Lynch Syndrome Screenings Studied

Immunohistochemistry followed by single gene sequencing found superior to other strategies

MONDAY, Aug. 24 (HealthDay News) -- In patients newly diagnosed with endometrial cancer, immunohistochemistry followed by single gene sequencing may be the most cost-effective screening strategy for Lynch syndrome, according to a study published in the September issue of Obstetrics & Gynecology.

Kimberly Resnick, M.D., of the Ohio State University College of Medicine in Columbus, and colleagues compared four screening strategies, including immunohistochemical evaluation of tumor specimens for mismatch repair protein expression after single gene sequencing.

If the immunohistochemistry/single gene sequencing strategy were applied to all 40,000 women diagnosed each year with endometrial cancer, the researchers found that it would detect 858 cases of Lynch syndrome at a cost of $17 million. They also found that the sequence-all strategy would detect 920 cases at a cost of $105 million, the Amsterdam criteria strategy would detect 83 patients at a cost of $7 million, and the sequence aged younger than 60 years strategy would detect 800 patients at a cost of $52 million.

"We acknowledge that immunohistochemistry followed by single gene sequencing may not be universally accepted; however, immunohistochemistry is already used clinically as a primary screen for Lynch syndrome in patients with newly diagnosed colorectal cancer at many cancer centers," the authors write. "Given the fact that 2 percent of patients with both endometrial cancer and colorectal cancer will have Lynch syndrome, it is reasonable to recommend that primary screening with immunohistochemistry should be applied to both of these populations."

One co-author reported a financial relationship with Myriad Genetic Laboratories Inc.

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