2.6. Microsatellite Insability/Mismatch Repair Deficiency (MSI-h/MMR) Status

SK Samuel A. Kareff
AT Asaad Trabolsi
HK Harris B. Krause
TS Timothy Samec
AE Andrew Elliott
ER Estelamari Rodriguez
CO Coral Olazagasti
DW Dionysios C. Watson
MB Matias A. Bustos
DH Dave S. B. Hoon
SG Stephanie L. Graff
EA Emmanuel S. Antonarakis
SG Sanjay Goel
GS George Sledge
GL Gilberto Lopes
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A combination of multiple test platforms was used to determine MSI-H or dMMR status of the tumors profiled, including fragment analysis (FA; Promega, Madison, WI, USA), immunohistochemistry (IHC; MLH1, M1 antibody; MSH2, G2191129 antibody; MSH6, 44 antibody; and PMS2, EPR3947 antibody [Ventana Medical Systems, Inc., Tucson, AZ, USA]), and NGS (>2800 target microsatellite loci were examined and compared to the reference genome hg19 from the University of California). The two platforms generated highly concordant results, as previously reported, and in rare cases of discordant results, the MSI-H or MMR status of the tumor was determined in the order of IHC and NGS.

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