Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing.

摘要: Germline mutations in the mismatch repair genes mutL homolog 1 (MLH1) and mutS 2 (MSH2), MSH6, postmeiotic segregation increased (PMS2) lead to development of hereditary nonpolyposis colorectal cancer (HNPCC). Diagnosis HNPCC relies on compilation a thorough family history cancer, documentation pathological findings, tumor testing for microsatellite instability (MSI) immunohistochemistry (IHC), germline mutation analysis suspected genes. As hallmark HNPCC, is widely accepted as primary method identifying individuals at risk HNPCC. It serves an excellent, easy-to-evaluate marker deficiency. Recent improvements MSI have significantly enhanced accuracy reduced its cost. Proficiency available, laboratory-to-laboratory reproducibility such can be easily evaluated. In addition, combination testing, MLH1 promoter methylation analysis, BRAF (V600E) distinguish sporadic from one associated with helping avoid costly molecular genetic this article, we discuss markers used screening focus advantages disadvantages patients. We conclude that sensitive specific IHC, given excellent potential capability indicate not detected by IHC. has been will continue prevail tool