Artificial Intelligence Models for the Detection of Microsatellite Instability from Whole-Slide Imaging of Colorectal Cancer

Author:

Faa Gavino1,Coghe Ferdinando2,Pretta Andrea3,Castagnola Massimo4ORCID,Van Eyken Peter5,Saba Luca6,Scartozzi Mario3,Fraschini Matteo7ORCID

Affiliation:

1. Dipartimento di Scienze Mediche e Sanità Pubblica, University of Cagliari, 09123 Cagliari, Italy

2. UOC Laboratorio Analisi, AOU of Cagliari, 09123 Cagliari, Italy

3. Medical Oncology Unit, University Hospital and University of Cagliari, 09042 Cagliari, Italy

4. Laboratorio di Proteomica, Centro Europeo di Ricerca sul Cervello, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy

5. Division of Pathology, Genk Regional Hospital, 3600 Genk, Belgium

6. Department of Radiology, Azienda Ospedaliero Universitaria, University of Cagliari, 40138 Cagliari, Italy

7. Dipartimento di Ingegneria Elettrica ed Elettronica, University of Cagliari, 09123 Cagliari, Italy

Abstract

With the advent of whole-slide imaging (WSI), a technology that can digitally scan whole slides in high resolution, pathology is undergoing a digital revolution. Detecting microsatellite instability (MSI) in colorectal cancer is crucial for proper treatment, as it identifies patients responsible for immunotherapy. Even though universal testing for MSI is recommended, particularly in patients affected by colorectal cancer (CRC), many patients remain untested, and they reside mainly in low-income countries. A critical need exists for accessible, low-cost tools to perform MSI pre-screening. Here, the potential predictive role of the most relevant artificial intelligence-driven models in predicting microsatellite instability directly from histology alone is discussed, focusing on CRC. The role of deep learning (DL) models in identifying the MSI status is here analyzed in the most relevant studies reporting the development of algorithms trained to this end. The most important performance and the most relevant deficiencies are discussed for every AI method. The models proposed for algorithm sharing among multiple research and clinical centers, including federal learning (FL) and swarm learning (SL), are reported. According to all the studies reported here, AI models are valuable tools for predicting MSI status on WSI alone in CRC. The use of digitized H&E-stained sections and a trained algorithm allow the extraction of relevant molecular information, such as MSI status, in a short time and at a low cost. The possible advantages related to introducing DL methods in routine surgical pathology are underlined here, and the acceleration of the digital transformation of pathology departments and services is recommended.

Publisher

MDPI AG

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