Deep learning‐based prediction of H3K27M alteration in diffuse midline gliomas based on whole‐brain MRI

Abstract

BackgroundH3K27M mutation status significantly affects the prognosis of patients with diffuse midline gliomas (DMGs), but this tumor presents a high risk of pathological acquisition. We aimed to construct a fully automated model for predicting the H3K27M alteration status of DMGs based on deep learning using whole‐brain MRI.MethodsDMG patients from West China Hospital of Sichuan University (WCHSU; n = 200) and Chengdu Shangjin Nanfu Hospital (CSNH; n = 35) who met the inclusion and exclusion criteria from February 2016 to April 2022 were enrolled as the training and external test sets, respectively. To adapt the model to the human head MRI scene, we use normal human head MR images to pretrain the model. The classification and tumor segmentation tasks are naturally related, so we conducted cotraining for the two tasks to enable information interaction between them and improve the accuracy of the classification task.ResultsThe average classification accuracies of our model on the training and external test sets was 90.5% and 85.1%, respectively. Ablation experiments showed that pretraining and cotraining could improve the prediction accuracy and generalization performance of the model. In the training and external test sets, the average areas under the receiver operating characteristic curve (AUROCs) were 94.18% and 87.64%, and the average areas under the precision‐recall curve (AUPRC) were 93.26% and 85.4%.ConclusionsThe developed model achieved excellent performance in predicting the H3K27M alteration status in DMGs, and its good reproducibility and generalization were verified in the external dataset.

Novel Imaging Approaches for Glioma Classification in the Era of the World Health Organization 2021 Update: A Scoping Review

“…Most studies analyzed adult populations and high-grade gliomas, with only five studies (8%) analyzing pediatric populations [3][4][5][6][7], ten studies (16%) analyzing low-grade glioma [3,5,6,[8][9][10][11][12][13][14] and only four studies (6%) focusing on diffuse midline glioma [15][16][17][18]. Data on the analyzed patient population are shown in Table 2.…”

“…Overall, 41/62 of the reviewed studies (66%) focused on predicting IDH mutation and 1p/19q codeletion status only, while 33 studies (53%) analyzed other molecular subgroups. These were TERT [9,37,[40][41][42][43][44][45][46], ATRX [8,[47][48][49][50][51], H3K27 [4,[15][16][17][18], MGMT [50,[52][53][54][55], P53 [8,16,51,53], CDKN2A/B [12,30,35,56], EGFR [36], chr7/10 [57] and BRAF alterations [3,[5][6][7]. The reported AUC values range from 0.6 to 0.98 for these predictions with an average of 0.82 to 0.9.…”