Matsunashi Atsushi, Zhipeng Wang, Sugimoto Akihiko, Fujimoto Masakazu, Yoshizawa Akihiko, Sakamoto Ryo, Uyama Michihiro, Ikezoe Kohei, Tanizawa Kiminobu, Handa Tomohiro, Hirai Toyohiro
Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Japan.
Department of Diagnostic Pathology, Graduate School of Medicine, Kyoto University, Japan.
Intern Med. 2025 Jun 15;64(12):1877-1883. doi: 10.2169/internalmedicine.4247-24. Epub 2024 Nov 28.
Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, characterized by the infiltration of disease-specific foamy histiocytes, polymorphic granulomas, and fibrosis. Although cardiovascular involvement is observed radiologically in approximately half of ECD patients, only a few reports have described its pathological features. We herein report the autopsy of an ECD patient with pulmonary, cardiovascular, and retroperitoneal involvement that may have caused his death. Autopsy revealed the pathological association of coronary and renal arterial stenosis with the BRAF gene mutation. BRAF mutations should be considered in patients with ECD, especially in those with arterial lesions.
Erdheim-Chester病（ECD）是一种罕见的非朗格汉斯细胞组织细胞增多症，其特征为疾病特异性泡沫状组织细胞浸润、多形性肉芽肿和纤维化。虽然约半数ECD患者经影像学检查发现有心血管受累，但仅有少数报告描述过其病理特征。我们在此报告一例患有肺部、心血管及腹膜后受累的ECD患者的尸检情况，这些受累情况可能导致了他的死亡。尸检揭示了冠状动脉和肾动脉狭窄与BRAF基因突变之间的病理关联。对于ECD患者，尤其是有动脉病变的患者，应考虑BRAF基因突变。
