Tumor tissue screening helps spot Lynch syndrome

Last Updated: 2015-08-07

By David Douglas

NEW YORK (Reuters Health) - Checking for Lynch syndrome (LS) via germline mutations in mismatch repair (MMR) genes appears to be an effective and cost-saving strategy in patients with colorectal cancer (CRC), researchers say.

"We found that screening tumour tissue was a simple, practical and cost-effective approach that we recommend can be implemented in most major cancer centres," Dr. Richard Colling of the University of Oxford in the U.K. told Reuters Health by email.

LS accounts for around 3% of CRCs. A recent U.K. National Health Service report recognized that screening for the disease by any method is cost-effective in the long term, but stressed that more research is needed, Dr. Colling and colleagues note in a paper online July 22 in the Journal of Clinical Pathology.

The team audited 209 CRC tumors screened via MMR immunohistochemistry (IHC) in 2013. The total cost came to £12,540 (US$19,369), they found.

Overall, 21% of the tumors showed IHC loss of expression in at least one MMR protein. Thus the approach reduced the number of potential clinical genetics referrals from 209 to 47.

BRAF mutation testing, performed in 28 of the 44 cases with MLH1 loss, further reduced this to 21. Thus, the researchers conclude that, "At a cost of £1340 per referral, this model of LS screening for clinical genetics referral had significant potential savings (£234,340) and can be easily implemented in parallel with MMR IHC done for prognostication in CRCs."

Using this strategy, the researchers add, "the potential cost savings are immediately realisable, in contrast to other promising strategies for LS screening such as the use of cancer gene panels, which, while potentially cost saving are likely to be further from clinical implementation."

"Screening for Lynch syndrome in high risk patients with CRC is now becoming an important part of the routine care given by pathologists internationally," Dr. Colling said.

SOURCE: http://bit.ly/1gPyWk0

J Clin Pathol 2015.