Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
BMC Gastroenterol. 2022 Jun 21;22(1):302. doi: 10.1186/s12876-022-02378-8.
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by infiltration of lipid-laden foamy macrophages within different tissues. Clinical manifestations of ECD are highly heterogeneous. Bone lesions are found in 80%-95% of patients, while extraosseous lesions usually involve the cardiovascular system, retroperitoneum, central nervous system (CNS), and skin. Pancreatic involvement in ECD has barely been reported.
A 29-year-old female initially presented with menoxenia, diabetes insipidus and diabetes mellitus. 18F-fluorodeoxyglucose positron emission tomography-computed tomography (18F-FDG-PET/CT) revealed hypermetabolic foci in the bilateral frontal lobe, saddle area, and pancreas. A 99mTc-MDP bone scrintigraphy scan revealed symmetrical increased uptake in distal femoral and proximal tibial metaphysis, which was confirmed to be osteosclerosis by high-resolution peripheral quantitative computed tomography. The patient underwent incomplete resection of the sellar mass. Histological examination of biopsies showed histiocytic aggregates, which were positive for S100 and negative for CD1a and CD207 on immunohistochemistry. Enhanced abdominal CT scan showed hypointense nodules within the body and tail of the pancreas. Endoscopic ultrasonography guided fine-needle aspiration (EUS-FNA) found no evidence of malignancy. She was diagnosed with ECD and treated with high-dose IFN-α. Repeated examinations at three-and eight-months post treatment revealed markedly reduction of both intracranial and pancreatic lesions.
ECD is a rare histiocytic neoplasm that can involve almost every organ, whereas pancreatic involvement has barely been reported to date. Here, we present the rare case of pancreatic lesions in ECD that responded well to interferon-α. We further reviewed reports of pancreatic involvement in histiocytic disorders and concluded the characteristics of such lesions to help diagnosis and treatment, in which these lesions mimicked pancreatic adenocarcinoma and caused unnecessary invasive surgeries.
Erdheim-Chester 病（ECD）是一种罕见的非朗格汉斯细胞组织细胞增生症，其特征是在不同组织中浸润富含脂质的泡沫巨噬细胞。ECD 的临床表现高度异质。80%-95%的患者存在骨病变，而骨外病变通常累及心血管系统、腹膜后、中枢神经系统（CNS）和皮肤。ECD 中胰腺受累的报道几乎没有。
一名 29 岁女性最初表现为月经初潮、尿崩症和糖尿病。18F-氟脱氧葡萄糖正电子发射断层扫描-计算机断层扫描（18F-FDG-PET/CT）显示双侧额叶、鞍区和胰腺有高代谢病灶。99mTc-MDP 骨扫描显示双侧股骨远端和胫骨近端干骺端对称性摄取增加，高分辨率外周定量计算机断层扫描证实为骨硬化。患者接受了鞍区肿块的不完全切除术。活检组织学检查显示组织细胞聚集，免疫组化显示 S100 阳性，CD1a 和 CD207 阴性。增强腹部 CT 扫描显示胰腺体部和尾部有低信号结节。内镜超声引导下细针抽吸（EUS-FNA）未发现恶性证据。她被诊断为 ECD，并接受了大剂量 IFN-α 治疗。治疗后 3 个月和 8 个月的重复检查显示颅内和胰腺病变明显减少。
ECD 是一种罕见的组织细胞肿瘤，几乎可以累及所有器官，而胰腺受累的报道至今罕见。本文报道了 ECD 胰腺病变的罕见病例，干扰素-α治疗效果良好。我们进一步回顾了组织细胞疾病中胰腺受累的病例报告，并总结了此类病变的特征，以帮助诊断和治疗，这些病变类似于胰腺腺癌，导致不必要的侵袭性手术。
