Lu T, Wang S, Huang H, Wang T, Wang M, Zhong D R, Feng R E
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
Zhonghua Jie He He Hu Xi Za Zhi. 2017 Aug 12;40(8):604-610. doi: 10.3760/cma.j.issn.1001-0939.2017.08.012.
To explore the clinical manifestations, pathological features, differential diagnosis and gene mutation status in patients with pulmonary involvement of Erdheim-Chester disease (ECD). The clinical data of 4 cases of Erdheim-Chester disease admitted to Peking Union Medical College Hospital from October 2014 to August 2016 were examined for imaging, microscopic and immunohistochemitry findings, and BRAFV600E mutation. The related literatures were reviewed. Among the 4 cases, there were 3 males and 1 female, aging from 7 to 47 years, and the average age was 34.5 years. They complained of chest tightness, shortness of breath and bone pain. They all had multiple bone lesions, involving the long bones, skulls and vertebrae, and imaging showed increased bone uptake and bone sclerosis. CT scan showed pleural thickening or pleural effusion(4/4), widened lobular septa(3/4), bronchial vascular bundle thickening(3/4), multiple patchy ground glass and solid shadows(4/4), and cystic shadows(1/4). Multiple bone lesions were the main extrapulmonary manifestations. All the cases had multiple bone lesions, involving the long bones, skulls and vertebrae, and showed increased bone uptake and bone sclerosis. Surgical biopsy of the thoracic tissue was performed in all 4 cases (pleural in 1 case, lung in 2, anterior mediastinal mass in 1). Microscopically, the lesion was composed of spindle-shaped fibroblasts and foamy histiocytes enmeshed in reactive fibrous tissue. Lymphocytes and plasma cells were also found. Immunohistochemically, all the histiocytes were positive for CD(68), and none of them expressed CD1a. All cases were detected by real-time quantitative PCR for BRAFV600E gene mutation. The pulmonary involvement of Erdheim-Chester disease is rare, with clinical manifestations of chest tightness, shortness of breath, and some have no obvious respiratory symptoms. Pulmonary involvement in Erdheim-Chester disease has important manifestations, in which foam-like tissue cells with diffuse distribution along the lymphatic enmeshed in reactive fibrous tissue. It should be differentiated from diffuse interstitial lung diseases and metastatic tumors. The clinical features are often manifested as pleural thickening and pleural effusion, with multiple bone sclerosis lesions.BRAFV600E mutation detection is helpful for the diagnosis.
探讨肺受累的厄尔海姆-切斯特病（ECD）患者的临床表现、病理特征、鉴别诊断及基因突变状态。回顾性分析2014年10月至2016年8月在北京协和医院住院治疗的4例ECD患者的临床资料，对其进行影像学、显微镜及免疫组织化学检查，并检测BRAFV600E突变情况，同时复习相关文献。4例患者中，男性3例，女性1例，年龄7～47岁，平均34.5岁。患者均有胸闷、气短及骨痛症状。均有多发性骨病变，累及长骨、颅骨及椎体，影像学表现为骨摄取增加及骨质硬化。CT扫描显示胸膜增厚或胸腔积液（4/4）、小叶间隔增宽（3/4）、支气管血管束增粗（3/4）、多发斑片状磨玻璃影及实变影（4/4）、囊状影（1/4）。多发性骨病变是主要的肺外表现。4例患者均有多发性骨病变，累及长骨、颅骨及椎体，表现为骨摄取增加及骨质硬化。4例均行胸部组织手术活检（1例胸膜活检、2例肺活检、1例前纵隔肿物活检）。显微镜下，病变由梭形成纤维细胞和泡沫状组织细胞构成，包埋于反应性纤维组织中，可见淋巴细胞及浆细胞。免疫组织化学检查显示，所有组织细胞CD（68）阳性，CD1a均阴性。所有病例均采用实时定量PCR检测BRAFV600E基因突变。肺受累的ECD罕见，临床表现为胸闷、气短，部分患者无明显呼吸道症状。肺受累的ECD有重要表现，即泡沫样组织细胞沿淋巴管呈弥漫性分布，包埋于反应性纤维组织中。应与弥漫性间质性肺疾病及转移性肿瘤相鉴别。临床特征常表现为胸膜增厚及胸腔积液，伴有多发性骨质硬化病变。检测BRAFV600E突变有助于诊断。
