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Detection of microsatellite instability in a panel of solid tumours with the Idylla MSI Test using extracted DNA
  1. Adrien Pécriaux1,
  2. Loetitia Favre1,2,
  3. Julien Calderaro1,2,
  4. Cécile Charpy1,
  5. Jonathan Derman1,
  6. Anaïs Pujals1,2
  1. 1 Department of Pathology, CHU Henri Mondor, Créteil, France
  2. 2 Université Paris-Est Créteil Val de Marne Faculté de médecine, Creteil, France
  1. Correspondence to Dr Anaïs Pujals, Pathology, CHU Henri Mondor, Creteil 94000, France; anais.pujals{at}


Aim During the last few years, determination of microstatellite instability (MSI) status has become a routine part of clinical practice, essentially to detect Lynch syndrome. Recently, MSI testing has increased with the development of immunotherapy and has expanded to a large panel of solid tumours. The aim of our work was to evaluate a fully automated system developed by Biocartis, the Idylla MSI Test, which performs an MSI analysis within 150 min.

Methods A comparison between pentaplex PCR, immunohistochemistry and Idylla MSI Test was performed in 53 colorectal carcinoma samples, 7 small intestine adenocarcinomas, 15 duodenal and pancreatic adenocarcinomas, 16 gastric tumours, 15 endometrial adenocarcinomas, 5 ovarian carcinomas and 4 cases of urinary tract tumours using extracted DNA. Limit-of-detection (LOD) experiment was also done using a commercial DNA known to harbour MSI phenotype.

Results The overall sensitivity was 94% and the overall specificity was 100%. Two invalid and three false-negative results were observed. Our experiments showed that the amount of DNA loaded into the cartridge was decisive and should be superior to 25 ng. LOD comprised between 4% and 8%.

Conclusion Overall, we have demonstrated that the Idylla MSI Test is a rapid and valid option to detect MSI phenotype which can be used in a large panel of solid tumours.

  • DNA
  • colorectal neoplasms
  • pancreatic neoplasms
  • stomach neoplasms
  • pathology
  • molecular

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  • Handling editor Runjan Chetty.

  • AdP and LF contributed equally.

  • Contributors AdP: conceptualisation, methodology, investigation. LF: investigation, writing⁠—original draft. JC: resources, investigation. CC, JD: resources. AnP: data curation, supervision, writing⁠—original draft.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement All data relevant to the study are included in the article.