Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA; Department of Radiology, University of Alabama at Birmingham, Birmingham, AL, USA.
Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Clin Imaging. 2024 Feb;106:110067. doi: 10.1016/j.clinimag.2023.110067. Epub 2023 Dec 14.
The aim of this study was to characterize the distribution of skeletal involvement in Erdheim-Chester disease (ECD) by using radiography, computed tomography (CT), F-FDG positron emission tomography/computed tomography (PET/CT), and bone scans, as well as looking for associations with the BRAF mutation.
Prospective study of 50 consecutive patients with biopsy-confirmed ECD who had radiographs, CT, F-FDG PET/CT, and Tc-99m MDP bone scans. At least two experienced radiologists with expertise in the relevant imaging studies analyzed the images. Summary statistics were expressed as the frequency with percentages for categorical data. Fisher's exact test, as well as odds ratios (OR) with 95 % confidence intervals (CI), were used to link imaging findings to BRAF mutation. The probability for co-occurrence of bone involvement at different locations was calculated and graphed as a heat map.
All 50 cases revealed skeletal involvement at different regions of the skeleton. The BRAF mutation, which was found in 24 patients, was correlated with femoral and tibial involvement on F-FDG PET/CT and bone scan. The appearance of changes on the femoral, tibial, fibular, and humeral involvement showed correlation with each other based on heat maps of skeletal involvement on CT.
This study reports the distribution of skeletal involvement in a cohort of patients with ECD. CT is able to detect the majority of ECD skeletal involvement. Considering the complementary nature of information from different modalities, imaging of ECD skeletal involvement is optimized by using a multi-modality strategy.
本研究旨在通过 X 线摄影、计算机断层扫描（CT）、氟代脱氧葡萄糖正电子发射断层扫描/CT（FDG PET/CT）和骨扫描，描述 Erdheim-Chester 病（ECD）骨骼受累的分布特征，并寻找与 BRAF 突变的关联。
对 50 例经活检证实的 ECD 患者进行前瞻性研究，这些患者进行了 X 线摄影、CT、FDG PET/CT 和 Tc-99m MDP 骨扫描。至少两位具有相关影像学研究专业知识的经验丰富的放射科医生对图像进行了分析。汇总统计数据以百分比表示分类数据。采用 Fisher 确切检验以及比值比（OR）及其 95%置信区间（CI），将影像学表现与 BRAF 突变联系起来。计算不同部位骨骼受累的共同发生概率，并以热图形式绘制。
所有 50 例患者均在骨骼的不同部位显示骨骼受累。在 24 例患者中发现了 BRAF 突变，该突变与 FDG PET/CT 和骨扫描的股骨和胫骨受累相关。基于 CT 骨骼受累的热图，股骨、胫骨、腓骨和肱骨受累的变化表现出相互关联。
本研究报告了 ECD 患者队列中骨骼受累的分布情况。CT 能够检测到大多数 ECD 骨骼受累。考虑到不同模式信息的互补性，通过采用多模式策略可以优化 ECD 骨骼受累的影像学检查。
