Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 29 September 2013, last major update June 2005
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
PubMed Search: Microsatellite instability[title]
- Changes at (CA)n and (GT)n repeats, associated with dysfunction of DNA repair mechanisms
- Involve MLH1, MSH2 proteins
- Associated with all cases of hereditary nonpolyposis colorectal cancer and 15% of sporadic colorectal cancers
- Hallmark of hereditary nonpolyposis colon cancer (HNPCC) associated tumors is defective mismatch repair, reflected in tumor tissue as microsatellite instability and loss of mismatch repair proteins MLH1, MSH2, MSH6, PMS2
- Mismatch repair defects found in 15% of sporadic colorectal cancer in >90% of HNPCC associated cancers
- Defects present in 65% of adenomas from HNPCC patients - loss of staining in patient suspected of having HNPCC may be used to direct mutation analysis (Mod Pathol 2005;18:1095)
Loss of immunostaining in adenomas from HNPCC patients
End of Stains > Microsatellite instability
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