Deep learning-based IDH1 gene mutation prediction using histopathological imaging and clinical data.

Journal: Computers in biology and medicine
Published Date:

Abstract

In the field of histopathology, many studies on the classification of whole slide images (WSIs) using artificial intelligence (AI) technology have been reported. We have studied the disease progression assessment of glioma. Adult-type diffuse gliomas, a type of brain tumor, are classified into astrocytoma, oligodendroglioma, and glioblastoma. Astrocytoma and oligodendroglioma are also called low grade glioma (LGG), and glioblastoma is also called glioblastoma multiforme (GBM). LGG patients frequently have isocitrate dehydrogenase (IDH) mutations. Patients with IDH mutations have been reported to have a better prognosis than patients without IDH mutations. Therefore, IDH mutations are an essential indicator for the classification of glioma. That is why we focused on the IDH1 mutation. In this paper, we aimed to classify the presence or absence of the IDH1 mutation using WSIs and clinical data of glioma patients. Ensemble learning between the WSIs model and the clinical data model is used to classify the presence or absence of IDH1 mutation. By using slide level labels, we combined patch-based imaging information from hematoxylin and eosin (H & E) stained WSIs, along with clinical data using deep image feature extraction and machine learning classifier for predicting IDH1 gene mutation prediction versus wild-type across cohort of 546 patients. We experimented with different deep learning (DL) models including attention-based multiple instance learning (ABMIL) models on imaging data along with gradient boosting machine (LightGBM) for the clinical variables. Further, we used hyperparameter optimization to find the best overall model in terms of classification accuracy. We obtained the highest area under the curve (AUC) of 0.823 for WSIs, 0.782 for clinical data, and 0.852 for ensemble results using MaxViT and LightGBM combination, respectively. Our experimental results indicate that the overall accuracy of the AI models can be improved by using both clinical data and images.

Authors

  • Riku Nakagaki
    Graduate School of Engineering, Mie University, 1577 Kurima-machiya, Tsu, Mie 514-8507, Japan. Electronic address: 422m236@m.mie-u.ac.jp.
  • Shyam Sundar Debsarkar
    Department of Computer Science, University of Cincinnati, OH 45221, USA. Electronic address: debsarss@mail.uc.edu.
  • Hiroharu Kawanaka
    Department of Electrical and Electronic Engineering, Mie University, Tsu, Mie, Japan.
  • Bruce J Aronow
    Department of Computer Science, University of Cincinnati, OH 45221, USA; Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati, OH 45267, USA; Department of Biomedical Informatics, College of Medicine, University of Cincinnati, OH 45267, USA. Electronic address: bruce.aronow@cchmc.org.
  • V B Surya Prasath
    Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati OH 45229 USA. Departments of Pediatrics, Biomedical Informatics, Electrical Engineering and Computer Science, University of Cincinnati College of Medicine, Cincinnati, OH USA.