Detecting microsatellite instability in colorectal cancer using Transformer-based colonoscopy image classification and retrieval

PLoS One. 2024 Jan 25;19(1):e0292277. doi: 10.1371/journal.pone.0292277. eCollection 2024.

Abstract

Colorectal cancer (CRC) is a major global health concern, with microsatellite instability-high (MSI-H) being a defining characteristic of hereditary nonpolyposis colorectal cancer syndrome and affecting 15% of sporadic CRCs. Tumors with MSI-H have unique features and better prognosis compared to MSI-L and microsatellite stable (MSS) tumors. This study proposed establishing a MSI prediction model using more available and low-cost colonoscopy images instead of histopathology. The experiment utilized a database of 427 MSI-H and 1590 MSS colonoscopy images and vision Transformer (ViT) with different feature training approaches to establish the MSI prediction model. The accuracy of combining pre-trained ViT features was 84% with an area under the receiver operating characteristic curve of 0.86, which was better than that of DenseNet201 (80%, 0.80) in the experiment with support vector machine. The content-based image retrieval (CBIR) approach showed that ViT features can obtain a mean average precision of 0.81 compared to 0.79 of DenseNet201. ViT reduced the issues that occur in convolutional neural networks, including limited receptive field and gradient disappearance, and may be better at interpreting diagnostic information around tumors and surrounding tissues. By using CBIR, the presentation of similar images with the same MSI status would provide more convincing deep learning suggestions for clinical use.

MeSH terms

  • Colonoscopy
  • Colorectal Neoplasms* / diagnostic imaging
  • Colorectal Neoplasms* / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / pathology
  • Humans
  • Microsatellite Instability
  • Microsatellite Repeats

Grants and funding

The authors thank the Ministry of Science and Technology of Taiwan (MOST 111-2221-E-004-012) and VGHUST Joint Research Program (VGHUST112-G1-4-1, VGHUST112-G1-4-2) for financially supporting this study. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.