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  • Microsatellite instability evaluation of patients with solid tumour: routine practice insight from a large series of Italian referral centre

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Microsatellite instability evaluation of patients with solid tumour: routine practice insight from a large series of Italian referral centre
  1. Gianluca Russo1,
  2. Francesco Pepe1,
  3. Pasquale Pisapia1,
  4. Lucia Palumbo1,
  5. Mariantonia Nacchio1,
  6. Elena Vigliar1,
  7. Pierlorenzo Pallante2,
  8. Paola Parente3,
  9. Matteo Fassan4,5,
  10. Paolo Graziano3,
  11. Claudio Bellevicine1,
  12. Giancarlo Troncone1,
  13. Umberto Malapelle1,
  14. Antonino Iaccarino1
  1. 1 Public Health, University of Naples Federico II, Naples, Italy
  2. 2 Institute of Experimental Endocrinology and Oncology (IEOS) "G. Salvatore", National Research Council, Naples, Italy
  3. 3 Unit of Pathology, Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
  4. 4 Surgical Pathology Unit, Department of Medicine (DIMED), Padua University Hospital, Padua, Italy
  5. 5 Veneto Institute of Oncology, IOV IRCCS, Padua, Italy
  1. Correspondence to Professor Giancarlo Troncone, Public Health, University of Naples Federico II, 80131 Naples, Italy; giancarlo.troncone{at}unina.it

Abstract

DNA mismatch repair complex is involved in the maintenance of DNA stability. In the recent years, a plethora of technical approaches for microsatellite instability (MSI) analysis emerged. Here, we review the results of our MSI status evaluation by adopting a customised workflow on microfluidic system obtained in 4 years of diagnostic routine practice. Data from MSI status were retrieved from our institutional archive covering the period from January 2017 to December 2021. Microfluidic analysis was carried out on microfluidic platform. Results were inspected with a proprietary software. Overall, microsatellite stability (MSS) and MSI-high (MSI-H) profile was detected in n=423/458 (92.36%) and n=35/458 (7.64%) patients with metastatic CRC (mCRC), respectively. In addition, n=78/86 (90.70%) and n=8/86 (9.30%) patients without CRC showed an MSS and MSI-H profile. This review highlights the suitability of microfluidic approach in patients with cancer for MSI testing.

  • pathology, molecular
  • colon
  • molecular biology

https://doi.org/10.1136/jclinpath-2022-208203

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    Footnotes

    • Handling editor Runjan Chetty.

    • Twitter @PasqualePisapia, @UmbertoMalapel1

    • Contributors Conceptualisation: UM; methodology: all authors; software: all authors; validation: all authors; formal analysis: all authors; investigation: all authors; resources: all authors; data curation: all authors; writing—original draft preparation: GR, FP, PPi, UM; writing—review and editing: all authors; visualisation: all authors; supervision: GT, UM; project administration: GT, UM; funding acquisition: GT.

    • Funding Monitoraggio ambientale, studio ed approfondimento della salute della popolazione residente in aree a rischio—In attuazione della D.G.R. Campanian.180/2019. POR Campania FESR 2014–2020 Progetto “Sviluppo di Approcci Terapeutici Innovativi per patologie Neoplastiche resistenti ai trattamenti—SATIN”.

    • Competing interests PPi has received personal fees as speaker bureau from Novartis, unrelated to the current work. EV has received personal fees (as consultant and/or speaker bureau) from Diaceutics, AstraZeneca unrelated to the current work. MF has received personal fees (as consultant and/or speaker bureau) from Roche, Diaceutics, GSK and Astellas Pharma and research grants from Astellas Pharma, QED Therapeutics and Macrophage Pharma, unrelated to the current work. GT reports personal fees (as speaker bureau or advisor) from Roche, MSD, Pfizer and Bayer, unrelated to the current work. PG received personal fees (as consultant and/or speaker bureau) from Eli Lilly, AstraZeneca, Pfizer, Novartis, Boehringer Ingelheim, Roche and MSD, unrelated to the current work. GT reports personal fees (as speaker bureau or advisor) from Roche, MSD, Pfizer, Boehringer Ingelheim, Eli Lilly, BMS, GSK, Menarini, AstraZeneca, Amgen and Bayer, unrelated to the current work. UM has received personal fees (as consultant and/or speaker bureau) from Boehringer Ingelheim, Roche, MSD, Amgen, Thermo Fisher Scientific, Eli Lilly, Diaceutics, GSK, Merck and AstraZeneca, Janssen, Diatech, Novartis, Hedera unrelated to the current work. The other authors have nothing to disclose.

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

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.