Article Text

Download PDFPDF

989 Analysis of microsatellite instability in endometrial cancers: comparative evaluation of molecular-based assays in formalin-fixed tissues
  1. P Gilson1,
  2. J Levy1,
  3. M Rouyer1,
  4. J Demange2,
  5. M Husson1,
  6. C Bonnet3,
  7. J Salleron2,
  8. A Leroux1,
  9. JL Merlin1 and
  10. A Harlé1
  1. 1Institut de Cancérologie de Lorraine , Biopathology Department, Vandoeuvre – Nancy, France
  2. 2Institut de Cancérologie de Lorraine , Biostatistics Unit, Vandoeuvre – Nancy, France
  3. 3CHRU Nancy, Genetics Laboratory, Vandoeuvre-Nancy, France


Introduction/Background*Microsatellite instability (MSI) is routinely analyzed in patients with endometrial cancers for selecting patients for immunotherapy. Standard reference methods recommended for MSI/dMMR (deficient MisMatch Repair) are immunohistochemistry and pentaplex PCR assays.

Methodology We evaluated here the performance of a custom capture-based NGS method, digital droplet (dd)-PCR and automated-PCR for the determination of MSI status in 30 formalin-fixed paraffin embedded (FFPE) tissue samples from patients with endometrial and colorectal cancers. All samples have been previously characterized using standard reference methods, set as gold standard.

Result(s)*Overall agreement, sensitivity and specificity were 93.3%, 93.8% and 92.9% for NGS. Overall agreement, sensitivity and specificity were 100% for dd-PCR and automated-PCR assays.

Conclusion*NGS, dd-PCR and automated-PCR can be used routinely used for the analysis of MSI detection and represent complementary options to IHC and pentaplex PCR assays. Dd-PCR and automated-PCR assays allow easy and fast analysis while NGS allows simultaneous analysis of MSI and clinically relevant genomic alterations.

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.