Li Ji, Zhang Ming, Zou Yadan, Zhang Jing, Song Juanjuan, Li Ting, Li Sheng-Guang
Department of Rheumatology and Immunology, Peking University International Hospital, Beijing, China.
Department of Pathology, Peking University International Hospital, Beijing, China.
Front Immunol. 2025 Jul 14;16:1611452. doi: 10.3389/fimmu.2025.1611452. eCollection 2025.
Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans histiocytosis. While often affecting the skeleton, cardiovascular system, and kidneys, pancreatic involvement remains uncommon and can mimic more prevalent conditions such as autoimmune or chronic pancreatitis.
A 58-year-old female presented with a two-year history of bilateral lower limb edema and a year-long course of recurrent abdominal pain. Imaging suggested necrotizing pancreatitis and retroperitoneal infiltration, yet serum IgG4 levels were normal. A CT-guided biopsy of the pancreas and retroperitoneum revealed diffuse proliferation of foamy histiocytes (CD68, CD163, CD1α) carrying the BRAF V600E mutation, confirming ECD. Supportive therapy and corticosteroids temporarily relieved symptoms, but targeted treatment was delayed due to the COVID-19 pandemic. Subsequent follow-up revealed significant clinical improvement following targeted therapy.
ECD can present with non-specific clinical features, leading to frequent misdiagnoses. Involvement of the pancreas, as demonstrated here, is particularly rare. The discovery of the BRAF V600E mutation underscores the importance of molecular testing for both diagnostic confirmation and therapeutic stratification. The immunopathogenesis of ECD involves activated macrophages and aberrant MAPK signaling, which drive chronic inflammation and tissue fibrosis.
This case highlights the diagnostic challenges of pancreatic ECD and underscores the critical value of an integrated approach-including imaging, immunohistochemistry, and molecular analysis-in achieving timely diagnosis. Early recognition and targeted therapy may significantly improve outcomes for patients with BRAF-mutant ECD.
厄尔德海姆-切斯特病（ECD）是一种极为罕见的非朗格汉斯组织细胞增多症。虽然该病常累及骨骼、心血管系统和肾脏，但胰腺受累情况仍不常见，且可能类似自身免疫性或慢性胰腺炎等更常见的病症。
一名58岁女性，有两年双下肢水肿病史及一年反复腹痛病程。影像学检查提示坏死性胰腺炎和腹膜后浸润，但血清IgG4水平正常。胰腺及腹膜后的CT引导下活检显示携带BRAF V600E突变的泡沫状组织细胞（CD68、CD163、CD1α）弥漫性增殖，确诊为ECD。支持治疗和皮质类固醇使症状暂时缓解，但由于新冠疫情，靶向治疗延迟。后续随访显示靶向治疗后临床有显著改善。
ECD可表现为非特异性临床特征，常导致误诊。如本病例所示，胰腺受累尤其罕见。BRAF V600E突变的发现强调了分子检测对于诊断确认和治疗分层的重要性。ECD的免疫发病机制涉及活化的巨噬细胞和异常的MAPK信号传导，从而驱动慢性炎症和组织纤维化。
本病例突出了胰腺ECD的诊断挑战，并强调了包括影像学、免疫组织化学和分子分析在内的综合方法在实现及时诊断方面的关键价值。早期识别和靶向治疗可能显著改善BRAF突变型ECD患者的预后。
