Preoperative Diagnosis of Lynch Syndrome With DNA Mismatch Repair Immunohistochemistry on a Diagnostic Biopsy

• DOI: 10.1097/dcr.0b013e318231db1f
• Publication Date: 2011-11-08T09:45:08Z
• Authors: S. K. Warrier; A. H. Trainer; A. C. Lynch; C. Mitchell; R. Hiscock; S. Sawyer; A. Boussioutas; A. G. Heriot
• Keywords: Lynch Syndrome; MSH6; MLH1; MSH2; PMS2

DNA mismatch repair immunohistochemistry on tumor tissue is a simple, readily available, and cost-effective method of identifying patients with Lynch syndrome in the postoperative setting. The aim study was to assess whether status colorectal cancer can be confirmed by preoperative biopsy.Germline positive were identified from prospectively collected Familial Cancer Clinic database. Preoperative biopsy specimens obtained source pathology provider generate cohort matched specimens. sectioned stained for 4 proteins (MLH1, MSH2, MSH6, PMS2). An age-matched compare selected Bethesda but negative patients. All slides reviewed single blinded pathologist. Wilson used calculate true underlying proportion whom result test 95% confidence interval.Of 128 germline mutation carriers, 40 (mean age 41, SD 11.3) had resections. Thirty-three retrievable biopsies 33 controls. mutations included 8 MLH1, 19 3 2 PMS2. In where known, sensitivity 100% (95% CI 89.2-100) specificity 89.2-100). Identical observed endoscopic predicting 94.9% 80.4-98.3).The disease reliably diagnostic sample before definitive surgery. Ascertaining diagnosis surgery influence surgical planning.