Department of Radiology, Mayo Clinic, Rochester, Minnesota.
Department of Immunology, Mayo Clinic, Rochester, Minnesota; and.
J Nucl Med. 2018 May;59(5):774-779. doi: 10.2967/jnumed.117.200741. Epub 2017 Nov 2.
The purpose of this study was to evaluate F-FDG PET/CT for the diagnosis, management, and treatment of Erdheim-Chester disease (ECD). Our institutional database (2007-2017) was retrospectively reviewed for patients with pathologically proven ECD. A chart review yielded demographics, clinical information, and 5 categories of clinical impact. Two radiologists in consensus interpreted the images. Imaging findings were correlated with clinical data. Seventy-one F-FDG PET/CT examinations were performed for 32 patients. The average SUV of the most active disease site was 9.2 (SD, 6.1). The most common sites involved were the skeleton (90.6% of patients, including 47% with axial and pelvic skeletal involvement), kidneys (81.3%), and central nervous system (CNS) (46.9%). Twenty-six patients were tested for a proto-oncogene B-Raf (BRAF) mutation (18 had the mutation and 8 did not). The presence of a BRAF mutation was associated with F-FDG-avid CNS disease ( = 0.0357), higher SUV ( = 0.0044), and greater mortality ( = 0.0215). The presence of CNS disease had 88% specificity and a 92% positive predictive value for predicting the presence of a BRAF mutation. PET/CT examination results influenced patient management in 48% of cases (34/71). F-FDG PET/CT results may act as a biomarker for the presence of a BRAF mutation, aid in establishing a diagnosis, guide biopsies, and gauge the treatment response in ECD patients. Axial and pelvic skeletal involvement is greater than previously reported.
本研究旨在评估 F-FDG PET/CT 在 Erdheim-Chester 病（ECD）的诊断、管理和治疗中的作用。我们回顾性分析了 2007 年至 2017 年我院的病理证实为 ECD 的患者的数据库。通过病历回顾获得患者的人口统计学、临床信息和 5 类临床影响。两位放射科医生通过共识对图像进行了解读。影像发现与临床数据相关联。对 32 名患者的 71 次 F-FDG PET/CT 检查进行了评估。最活跃病变部位的 SUV 平均为 9.2（标准差为 6.1）。最常见的受累部位是骨骼（90.6%的患者，包括 47%的患者有轴骨和骨盆骨骼受累）、肾脏（81.3%）和中枢神经系统（CNS）（46.9%）。26 名患者接受了原癌基因 B-Raf（BRAF）突变检测（18 名患者有突变，8 名患者无突变）。BRAF 突变的存在与 F-FDG 摄取的 CNS 疾病相关（ = 0.0357），SUV 更高（ = 0.0044），死亡率更高（ = 0.0215）。CNS 疾病的存在对预测 BRAF 突变的存在具有 88%的特异性和 92%的阳性预测值。PET/CT 检查结果影响了 48%（34/71）的患者的治疗方案。在 ECD 患者中，FDG-PET/CT 结果可能作为 BRAF 突变的生物标志物，有助于确立诊断、指导活检和评估治疗反应。轴骨和骨盆骨骼受累的程度比之前报道的更为严重。
