Abstract：
Erdheim-Chester disease (ECD) is a rare and probably fatal multisystemic non-Langerhans cell histiocytosis (LCH). To comprehensively investigate the clinical features, genomic analysis, treatments, and prognostic factors of ECD, we retrospectively analyzed the clinical data of 75 ECD patients and 10 mixed LCH and ECD patients in our center. The median age at diagnosis was 46 years (range, 5-70). ECD patients were older at diagnosis (p = 0.006) and had more cardiac involvement (p = 0.011) as well as vascular (p = 0.031) involvement compared to mixed LCH and ECD patients. 64.8% of ECD patients and 87.5% of mixed LCH and ECD patients carried BRAFV600E mutation. The BRAFV600E mutation correlated with a greater number of affected organs (p = 0.030) and was associated with lung involvement (p = 0.033) as well as pleural involvement (p = 0.002). The median follow-up time was 38 months (range, 1-174). The estimated 5-year progression-free survival (PFS) and overall survival (OS) were 48.9% and 84.7%, respectively. In a multivariate analysis, right atrial pseudotumor (p = 0.013) and pancreatic involvement (p = 0.005) predicted worse OS, while pleural (p = 0.042) and central nervous system (CNS) involvement (p = 0.043) predicted worse PFS. Our study described the clinical spectrum of ECD and mixed LCH and ECD, while also revealed the prognostic value of right atrial pseudotumor and pancreatic, pleural, and CNS involvement for worse survival.
摘要：
Erdheim-Chester病（ECD）是一种罕见且可能致命的多系统非朗格汉斯细胞组织细胞增生症（LCH）。全面探讨临床特点,基因组分析,治疗,和ECD的预后因素，我们回顾性分析了75例ECD患者和10例混合LCH和ECD患者的临床资料。诊断时的中位年龄为46岁（范围，5-70).与混合LCH和ECD患者相比，ECD患者在诊断时年龄较大（p=0.006），并且心脏受累（p=0.011）和血管受累（p=0.031）更多。64.8%的ECD患者和87.5%的混合LCH和ECD患者携带BRAFV600E突变。BRAFV600E突变与更多的受累器官（p=0.030）相关，并与肺受累（p=0.033）以及胸膜受累（p=0.002）相关。中位随访时间为38个月(范围,1-174）。估计5年无进展生存期（PFS）和总生存期（OS）分别为48.9%和84.7%，分别。在多变量分析中，右房假瘤（p=0.013）和胰腺受累（p=0.005）预测OS恶化，胸膜（p=0.042）和中枢神经系统（CNS）受累（p=0.043）预测PFS较差。我们的研究描述了ECD和混合LCH和ECD的临床谱，同时也揭示了右心房假瘤和胰腺的预后价值，胸膜,和中枢神经系统的参与使生存更差。
