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A Deep Learning-Based Approach for Explainable Microsatellite Instability Detection in Gastrointestinal Malignancies.

Ludovica Ciardiello1, Patrizia Agnello2, Marta Petyx2

  • 1Department of Medicine and Health Sciences "Vincenzo Tiberio", University of Molise, 86100 Campobasso, Italy.

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Summary

This study introduces an explainable deep learning method for detecting microsatellite instability in gastrointestinal cancers using histopathology images. The approach achieves high accuracy and provides interpretable predictions, paving the way for clinical integration.

Keywords:
Class Activation Mappingconvolutional neural networkdeep learningexplainabilitymicrosatellite instability

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Area of Science:

  • Oncology
  • Computational Pathology
  • Artificial Intelligence in Medicine

Background:

  • Microsatellite instability (MSI) is a crucial biomarker in gastrointestinal cancers, impacting diagnosis and treatment.
  • Current MSI detection methods are expensive, slow, and require specialized labs.
  • There is a need for efficient and accessible MSI detection techniques.

Purpose of the Study:

  • To develop an explainable deep learning (DL) method for MSI detection from histopathological images.
  • To evaluate the performance of various DL models, including CNNs and Vision Transformers.
  • To enhance the trustworthiness of DL predictions through explainability and robustness analysis.

Main Methods:

  • Utilized histopathological images for MSI detection.
  • Implemented and compared several DL architectures: MobileNet, Inception, VGG16, VGG19, and Vision Transformer.
  • Employed three Class Activation Mapping (CAM) techniques for model interpretability.
  • Introduced robustness metrics to assess the consistency of highlighted regions across CAM methods.

Main Results:

  • VGG16 and VGG19 models demonstrated superior performance, achieving accuracies of 0.926 and 0.917, respectively.
  • CAM techniques confirmed that models consistently focused on relevant tissue regions.
  • Robustness analysis indicated high agreement between different CAM methods, strengthening prediction reliability.

Conclusions:

  • The proposed DL method accurately detects MSI in gastrointestinal cancers using histopathological images.
  • The approach provides explainable predictions, increasing confidence in model outputs.
  • This method has the potential to facilitate the adoption of DL in clinical practice for cancer diagnostics.