Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 1 Shuai Fu Yuan Hu Tong, Dongcheng District, Beijing, 100730, China.
Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Orphanet J Rare Dis. 2019 Jan 10;14(1):11. doi: 10.1186/s13023-018-0988-y.
Erdheim-Chester disease (ECD) is a rare multi-systemic form of histiocytosis. Treatment with BRAF inhibitors has markedly improved outcomes of ECD; however, this targeted therapy is expensive (estimated annual cost is $50,000). Since estimated annual cost of interferon-α (IFN-α) is only approximately $1600 in China, we retrospectively evaluated the long-term therapeutic efficacy of IFN-α and the value of 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) as an assessment method among 32 ECD patients who received high dose IFN-α therapy at Peking Union Medical College Hospital.
The median age at diagnosis was 48 years (range, 6-66 years). The median duration of treatment was 18.5 months (range, 1-51 months). The overall clinical response rates were 80.0%, including 33.3% complete response, 36.7% partial response and 10.0% stable disease. Thirty-one patients underwent a total of 81 scans by FDG-PET. Seventeen patients had serial FDG-PET results, nine patients had experienced a partial metabolic response at the last follow-up. The median reduction of ratios between the most active target lesion standardized uptake value (SUV) and liver SUV from baseline to last FDG-PET scan was 61.4% (range, 8.8-86.6%). Eight of thirteen patients who experienced continuous clinical improvement during follow-up had at least one target lesion SUV increased by FDG-PET which decreased in subsequent scans without changing treatment strategy. The estimated 3-year progression-free survival (PFS) and overall survival (OS) were 64.1 and 84.5%, respectively. Central nervous system (CNS) involvement was the only predictor for poor PFS and OS.
High-dose IFN-α treatment is a cost-effective option, especially for patients without CNS involvement. Single target lesion SUV elevation according to FDG-PET do not accurately demonstrate disease progression, but serial FDG-PET imaging effectively discriminate treatment response.
Erdheim-Chester 病（ECD）是一种罕见的多系统组织细胞增生症。BRAF 抑制剂的治疗显著改善了 ECD 的预后；然而，这种靶向治疗很昂贵（估计每年的费用为 50,000 美元）。由于在中国干扰素-α（IFN-α）的估计年费用仅约为 1600 美元，我们回顾性评估了高剂量 IFN-α治疗 32 例 ECD 患者的长期疗效，以及 18F-氟脱氧葡萄糖正电子发射断层扫描（FDG-PET）作为一种评估方法。
诊断时的中位年龄为 48 岁（范围，6-66 岁）。治疗的中位持续时间为 18.5 个月（范围，1-51 个月）。总临床缓解率为 80.0%，包括完全缓解 33.3%，部分缓解 36.7%和稳定疾病 10.0%。31 例患者共进行了 81 次 FDG-PET 扫描。17 例患者有连续 FDG-PET 结果，9 例在最后一次随访时经历了部分代谢缓解。从基线到最后一次 FDG-PET 扫描，最活跃靶病变标准化摄取值（SUV）与肝脏 SUV 的比值中位数降低了 61.4%（范围，8.8-86.6%）。在随访期间持续临床改善的 13 例患者中有 8 例，至少有一个靶病变 SUV 增加了 FDG-PET，随后的扫描中 SUV 减少而未改变治疗策略。估计的 3 年无进展生存率（PFS）和总生存率（OS）分别为 64.1%和 84.5%。中枢神经系统（CNS）受累是 PFS 和 OS 不良的唯一预测因素。
高剂量 IFN-α 治疗是一种具有成本效益的选择，特别是对于没有 CNS 受累的患者。根据 FDG-PET 检测到的单个靶病变 SUV 升高并不能准确显示疾病进展，但连续的 FDG-PET 成像可有效区分治疗反应。
