Deficient mismatch repair system (dMMR)/
microsatellite instability (MSI) is found in about 5% of metastatic
colorectal cancers (mCRCs) with a major therapeutic impact for
immune checkpoint inhibitor (ICI) use. We conducted a multicentre study including all consecutive patients with a dMMR/MSI mCRC. MSI status was determined using the Pentaplex panel and expression of the four MMR
proteins was evaluated by immunohistochemistry (IHC). The primary endpoint was the rate of discordance of dMMR/MSI status between primary tumours and paired
metastases. We included 99 patients with a dMMR/MSI primary CRC and 117 paired
metastases. Only four discrepancies (3.4%) with a dMMR/MSI primary CRC and a pMMR/MSS
metastasis were initially identified and reviewed by expert pathologists and molecular biologists. Two cases were false discrepancies due to human or technical errors. One discordant case could not be confirmed due to the low level of tumour cells. The last case had a confirmed discrepancy with a dMMR/MSI primary CRC and a pMMR/MSS peritoneal
metastasis. Our study demonstrated a high concordance rate of dMMR/MSI status between primary
CRCs and their
metastases. The analysis of one sample, either from the primary tumour or
metastasis, with consistent dMMR and MSI status seems to be sufficient prior to treatment with ICI.