Integrated diagnosis of glioma based on magnetic resonance images with incomplete ground truth labels.

Background: Since the 2016 WHO guidelines, glioma diagnosis has entered an era of integrated diagnosis, combining tissue pathology and molecular pathology. The WHO has focused on promoting the application of molecular diagnosis in the classification of central nervous system tumors. Genetic information such as IDH1 and 1p/19q are important molecular markers, and pathological grading is also a key clinical indicator. However, obtaining genetic pathology labels is more costly than conventional MRI images, resulting in a large number of missing labels in realistic modeling.

Method: We propose a training strategy based on label encoding and a corresponding loss function to enable the model to effectively utilize data with missing labels. Additionally, we integrate a graph model with genes and pathology-related clinical prior knowledge into the ResNet backbone to further improve the efficacy of diagnosis. Ten-fold cross-validation experiments were conducted on a large dataset of 1072 patients.

Results: The classification area under the curve (AUC) values are 0.93, 0.91, and 0.90 for IDH1, 1p/19q status, and grade (LGG/HGG), respectively. When the label miss rate reached 59.3 %, the method improved the AUC by 0.09, 0.10, and 0.04 for IDH1, 1p/19q, and pathological grade, respectively, compared to the same backbone without the missing label strategy.

Conclusions: Our method effectively utilizes data with missing labels and integrates clinical prior knowledge, resulting in improved diagnostic performance for glioma genetic and pathological markers, even with high rates of missing labels.