Multimodal MR imaging signatures to identify brain diffuse midline gliomas with H3 K27M mutation

Background Conventional MR imaging has limited value in identifying H3 K27M mutations. We aimed to investigate the capacity of quantitative MR imaging variables in identifying the H3 K27M mutation status of diffuse midline glioma. Materials and Methods Twenty-three patients with H3 K27M mutation and thirty-two wild-type patients were recruited in this retrospective study, all of whom underwent multimodal MR imaging. Clinical data and quantitative MR imaging variables were explored by subgroup analysis stratified by age (juveniles and adults). Then, a logistic model for all patients was constructed to identify potential variables for predicting K27M mutation status. Besides, a retrospective validation set including 13 patients was recruited. The C-index and F1 score were used to evaluate the performance of the prediction model. Results It turned out that patients with H3 K27M mutation were younger in the adult subgroup. In the mutation group, some relative apparent diffusion coefficient (rADC) histogram parameters and myo-inositol/creatine plus phosphocreatine (Ins/tCr) ratio were lower than in the wild-type group of both juveniles and adults (p < 0.05). After nested cross-validation and LASSO algorithm, the age, Ins/tCr, and rADC_15th were selected as potential predictors for H3 K27M mutation in the model. The nomogram model showed good diagnostic power with a validated C-index of 0.884. In addition, the area under the curve (AUC) was 0.898 (0.976 in validation set) and the F1 score was 0.732. Conclusions In conclusion, age, rADC_15th, and Ins/tCr values were helpful in identifying H3 K27M mutations in midline gliomas.

Automated summary

In this study, it was found that patients with H3 K27M mutations were typically younger in age among midline glioma patients. Analysis showed that in the mutation group, some relative apparent diffusion coefficient (rADC) histogram parameters and myo-inositol/creatine plus phosphocreatine (Ins/tCr) ratio were lower compared to the wild-type group. A predictive model was constructed using factors such as age, Ins/tCr, and rADC_15th, showing good diagnostic power with a validated C-index of 0.884 and an AUC of 0.898.