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Heterogeneity of Mismatch Repair Status and Microsatellite Instability between Primary Tumour and Metastasis and Its Implications for Immunotherapy in Colorectal Cancers. | LitMetric

AI Article Synopsis

  • * A multicenter study involved 99 patients with dMMR/MSI primary colorectal cancers and 117 metastases, assessing the consistency of dMMR/MSI status between the primary tumors and their corresponding metastases.
  • * The findings showed a high concordance rate (96.6%) with only four discrepancies; two were due to errors, one couldn’t be confirmed, and one was a verified mismatch, suggesting that testing either a primary tumor or a metastasis for dMMR/MSI

Article Abstract

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032866PMC
http://dx.doi.org/10.3390/ijms23084427DOI Listing

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