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[Cancer Research 62, 3485-3492, June 15, 2002]
© 2002 American Association for Cancer Research

Molecular Biology and Genetics

Evaluation of Microsatellite Instability and Immunohistochemistry for the Prediction of Germ-Line MSH2 and MLH1 Mutations in Hereditary Nonpolyposis Colon Cancer Families1

Siobhan S. Wahlberg, James Schmeits, George Thomas, Massimo Loda, Judy Garber, Sapna Syngal, Richard D. Kolodner2 and Edward Fox

Dana Farber Cancer Institute [S. S. W., G. T., M. L., J. G., S. S., E. F.], Brigham and Women’s Hospital [G. T., M. L., S. S.], Harvard Medical School, Boston, Massachusetts 02115, and Ludwig Institute of Cancer Research [S. S. W., J. S., R. D. K.], Department of Medicine [R. D. K.] and Cancer Center [R. D. K.], University of California San Diego School of Medicine, La Jolla, California 92903

Forty-eight hereditary nonpolyposis colorectal carcinoma (HNPCC) familiesfor which a tumor sample was available were evaluated for the presence of germ-line mutations in MSH2 and MLH1, tumor microsatellite instability (MSI), and where possible, expression of MSH2 and MLH1 in tumors by immunohistochemistry. Fourteen of 48 of the families had a germ-line mutation in either MSH2 or MLH1 that could be detected by genomic DNA sequencing, and 28 of 48 of the families had MSI-H tumors. Four additional families showed loss of expression of MSH2, and one additional family showed loss of expression of MLH1 but did not have germ-line mutations in MSH2 or MLH1 that could be detected by DNA sequencing. MSI-H, as defined using the National Cancer Institute recommended five-microsatellite panel, had a 100% sensitivity for identifying samples having MSH2 or MLH1 mutations or loss of expression. In contrast, loss of MSH2 and MLH1 expression did not identify all samples having germ-line mutations in MSH2 or MLH1, because in five cases, a mutant protein product was expressed that could be detected by IHC. A combination of the Bethesda criteria for HNPCC and an MSI-H phenotype defined the smallest number of cases having all of the germ-line MSH2 and MLH1 mutations that could be detected by DNA sequencing.




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Copyright © 2002 by the American Association for Cancer Research.