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Abstract：
OBJECTIVE: To evaluate the heart response of Erdheim-Chester disease (ECD) through continuous follow-up within our large cohort, for which there is a lack of understanding.
METHODS: We conducted a retrospective analysis of clinical data from patients with ECD with cardiac involvement diagnosed at our centre between January 2010 and August 2023. We assessed the heart response by integrating pericardial effusion and metabolic responses.
RESULTS: A total of 40 patients were included, with a median age of 51.5 years (range: 29-66) and a BRAFV600E mutation rate of 56%. The most common imaging manifestations observed were pericardial effusion (73%), right atrium (70%) and right atrioventricular sulcus infiltration (58%). Among 21 evaluable patients, 18 (86%) achieved a heart response including 5 (24%) complete response (CR) and 13 (62%) partial response (PR). The CR rate of pericardial effusion response was 33%, while the PR rate was 56%. Regarding the cardiac mass response, 33% of patients showed PR. For cardiac metabolic response, 32% and 53% of patients achieved complete and partial metabolic response, respectively. There was a correlation between pericardial effusion response and cardiac metabolic response (r=0.73 (95% CI 0.12 to 0.83), p<0.001). The median follow-up was 50.2 months (range: 1.0-102.8 months). The estimated 5-year overall survival was 78.9%. The median progression-free survival was 59.4 months (95% CI 26.2 to 92.7 months). Patients who received BRAF inhibitors achieved better heart response (p=0.037) regardless of treatment lines.
CONCLUSIONS: We pioneered the evaluation of heart response of ECD considering both pericardial effusion and cardiac metabolic response within our cohort, revealing a correlation between these two indicators. BRAF inhibitors may improve heart response, regardless of the treatment lines.
METHODS: We conducted a retrospective analysis of clinical data from patients with ECD with cardiac involvement diagnosed at our centre between January 2010 and August 2023. We assessed the heart response by integrating pericardial effusion and metabolic responses.
RESULTS: A total of 40 patients were included, with a median age of 51.5 years (range: 29-66) and a BRAFV600E mutation rate of 56%. The most common imaging manifestations observed were pericardial effusion (73%), right atrium (70%) and right atrioventricular sulcus infiltration (58%). Among 21 evaluable patients, 18 (86%) achieved a heart response including 5 (24%) complete response (CR) and 13 (62%) partial response (PR). The CR rate of pericardial effusion response was 33%, while the PR rate was 56%. Regarding the cardiac mass response, 33% of patients showed PR. For cardiac metabolic response, 32% and 53% of patients achieved complete and partial metabolic response, respectively. There was a correlation between pericardial effusion response and cardiac metabolic response (r=0.73 (95% CI 0.12 to 0.83), p<0.001). The median follow-up was 50.2 months (range: 1.0-102.8 months). The estimated 5-year overall survival was 78.9%. The median progression-free survival was 59.4 months (95% CI 26.2 to 92.7 months). Patients who received BRAF inhibitors achieved better heart response (p=0.037) regardless of treatment lines.
CONCLUSIONS: We pioneered the evaluation of heart response of ECD considering both pericardial effusion and cardiac metabolic response within our cohort, revealing a correlation between these two indicators. BRAF inhibitors may improve heart response, regardless of the treatment lines.
摘要：
目的：通过在我们的大型队列中进行连续随访，评估Erdheim-Chester病（ECD）的心脏反应，对此缺乏理解。
方法：我们对2010年1月至2023年8月在我们中心诊断为心脏受累的ECD患者的临床资料进行了回顾性分析。我们通过整合心包积液和代谢反应来评估心脏反应。
结果：共纳入40例患者，中位年龄为51.5岁（范围：29-66），BRAFV600E突变率为56％。最常见的影像学表现是心包积液（73%）。右心房（70％）和右房室沟浸润（58％）。在21名可评估患者中，18（86％）获得了心脏反应，包括5（24％）完全反应（CR）和13（62％）部分反应（PR）。心包积液反应的CR率为33%，而PR率为56%。关于心脏质量反应，33%的患者表现为PR。对于心脏代谢反应，32％和53％的患者实现了完全和部分代谢反应，分别。心包积液反应与心脏代谢反应之间存在相关性（r=0.73（95％CI0.12至0.83），p<0.001)。中位随访时间为50.2个月（范围：1.0-102.8个月）。估计5年总生存率为78.9%。中位无进展生存期为59.4个月（95％CI26.2至92.7个月）。无论治疗路线如何，接受BRAF抑制剂的患者均获得了更好的心脏反应（p=0.037）。
结论：我们率先评估了ECD的心脏反应，同时考虑了我们队列中的心包积液和心脏代谢反应。揭示了这两个指标之间的相关性。BRAF抑制剂可以改善心脏反应，不管是什么治疗方法。
方法：我们对2010年1月至2023年8月在我们中心诊断为心脏受累的ECD患者的临床资料进行了回顾性分析。我们通过整合心包积液和代谢反应来评估心脏反应。
结果：共纳入40例患者，中位年龄为51.5岁（范围：29-66），BRAFV600E突变率为56％。最常见的影像学表现是心包积液（73%）。右心房（70％）和右房室沟浸润（58％）。在21名可评估患者中，18（86％）获得了心脏反应，包括5（24％）完全反应（CR）和13（62％）部分反应（PR）。心包积液反应的CR率为33%，而PR率为56%。关于心脏质量反应，33%的患者表现为PR。对于心脏代谢反应，32％和53％的患者实现了完全和部分代谢反应，分别。心包积液反应与心脏代谢反应之间存在相关性（r=0.73（95％CI0.12至0.83），p<0.001)。中位随访时间为50.2个月（范围：1.0-102.8个月）。估计5年总生存率为78.9%。中位无进展生存期为59.4个月（95％CI26.2至92.7个月）。无论治疗路线如何，接受BRAF抑制剂的患者均获得了更好的心脏反应（p=0.037）。
结论：我们率先评估了ECD的心脏反应，同时考虑了我们队列中的心包积液和心脏代谢反应。揭示了这两个指标之间的相关性。BRAF抑制剂可以改善心脏反应，不管是什么治疗方法。
