用拓扑方法分析肌内脂肪浸润,提升神经肌肉病诊断精度
MRI-based Deep Radiomic Phenotyping of Neuromuscular Disorders: A Topology-driven Characterization

- 基于图结构骨架化脂肪浸润,构建三维拓扑特征
- 拓扑指标效应量达0.2656,显著优于传统体积度量
- 适合研究神经肌肉病结构变化与纵向追踪的临床科研者
定量评估肌肉磁共振成像对监测神经肌肉疾病至关重要。本研究提出一种自动化放射组学表型分析框架,基于五个主要架构域:定量形态学、空间分布、几何形状、脂肪替代阶段间的交互作用,以及基于图的拓扑结构。利用来自CoMPaSS-NMD项目的1184例MRI扫描,将异质性肌内脂变的复杂三维架构转化为客观、可解释的生物标志物。引入基于图的脂肪浸润骨架化方法,量化肌肉结构变化,通过在整个3D肌肉体积上构建拓扑网络,扩展了传统空间无关的体积度量。非参数克鲁斯卡尔-沃利斯分析证实这些新描述符在遗传层级上的区分能力。值得注意的是,拓扑网络指标(如SF1_Skel_Nodes,ε² = 0.2656)和界面动态指标(如SF2_To_SF1_Dist_Min,ε² = 0.2092)表现出显著效应量,提供了比经典体积评估更深层次的结构洞察。事后成对分析与UMAP投影进一步表明,这些拓扑与三维几何不变量能捕捉疾病特异性的宏观浸润模式。结果表明,全局结构特征是一类极具前景的生物标志物,为神经肌肉病的鉴别诊断及纵向疾病动态追踪开辟新路径。所开发的自动化特征提取流程已集成至MUSCAT(MUSCle fAt Topology)库中。
原文摘要 · Abstract (English)
Quantitative assessment of muscle MRI is crucial for monitoring neuromuscular disorders (NMD). This study introduces an automated radiomic phenotyping framework based on original features engineered across five main architectural domains: quantitative morphometry, spatial distribution, geometric shape, interactions between progressive fat replacement stages, and graph-based topology. Utilizing 1184 MRI scans from the CoMPaSS-NMD project, we map the complex 3D architecture of heterogeneous intramuscular lipodegeneration into objective, morphologically interpretable biomarkers. We introduce a graph-based skeletonization of fat infiltrates to quantify muscle architectural changes, establishing a multi-dimensional extension of traditional, spatially-agnostic volume metrics by mapping topological networks across the entire 3D muscle volume. Statistical screening via non-parametric Kruskal-Wallis analysis confirmed the discriminative power of these novel descriptors across the genetic hierarchy. Notably, topological network metrics (e.g., SF1_Skel_Nodes, $ε^2$ = 0.2656) and interface dynamics metrics (e.g., SF2_To_SF1_Dist_Min, $ε^2$ = 0.2092) demonstrated substantial effect sizes, providing deeper structural insights than classical volumetric assessments. Post-hoc pairwise evaluations and UMAP projections further indicated the capability of these topological and 3D geometric invariants to capture disease-specific macroscopic infiltration patterns. These results demonstrate that global architectural features represent a highly promising class of biomarkers for differential diagnosis, offering new avenues for tracking longitudinal disease dynamics in neuromuscular diagnostics. The developed automated feature extraction pipeline is integrated and available within the MUSCAT (MUSCle fAt Topology) library.
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