目的分析肺上皮样血管内皮瘤（PEHE）的临床病理特征，以期指导临床实践。
方法回顾性收集2012年1月至2023年5月就诊于福建医科大学附属协和医院的原发性PEHE患者7例，分析并总结其临床表现、影像学检查、病理形态学及分子表达特征、治疗和预后等情况。
结果PEHE患者7例，其中肿物活检2例，肿物切除5例；男4例，女3例，中位年龄58岁；6例为双肺多发结节，仅1例为左下肺单发结节。患者临床症状包括咳嗽、咳痰、胸痛、气促，或无特殊症状。肺部CT显示类圆形实性结节影，密度尚均匀。组织学上，肿瘤呈结节状生长，间质富于胶原纤维伴玻璃样变性，可见丰富的黏液性基质，部分肿瘤中央坏死；上皮样的肿瘤细胞呈条索状、实性排列或以单个细胞分布，部分凸入肺泡腔内，胞质丰富嗜酸，可见胞质内空泡，形似原始血管腔样结构；细胞核圆形或卵圆形，部分核仁明显，呈轻至中度异型，核分裂象不易见。免疫组化示肿瘤细胞表达血管内皮标志CD31（7/7）、CD34（5/7）、ERG（6/6）、Fli-1（5/6）；CKpan（3/7）局灶阳性；2例TFE3部分弱阳性，后经荧光原位杂交实验检测证实不存在TFE3基因断裂；Ki-67阳性指数5%～10%，2例肿瘤细胞部分表达程序性死亡受体配体1。1例行肺癌相关分子检测未提示相关分子改变。7例患者中，手术治疗4例，化疗并手术治疗1例，观察2例。中位随访时间34.4个月，1例失访，6例存活，复查肺部CT提示肺内部分结节缓慢增大，未见其他脏器转移病灶。
结论PEHE是一种罕见的血管源性肿瘤，常以双肺缓慢生长的多发实性结节为特征。临床缺乏特异症状，易误诊为转移癌，确诊依赖于病理诊断，免疫组化有助于明确诊断与鉴别诊断。
ObjectiveThe clinicopathological features of pulmonary epithelioid hemangioendothelioma (PEHE) were analyzed to provide guidance for clinical practice.
MethodsThe clinical manifestations, imaging examination, pathological morphology and molecular characteristics, treatment and prognosis of patients with pulmonary epithelioid hemangioendothelioma were retrospectively collected. All cases were admitted to Fujian Medical University Union Hospital from January 2012 to May 2023.
ResultsOf 7 PEHE cases, 2 underwent tumor biopsy and 5 underwent tumor resection. There were 4 males and 3 females, with a median age of 58 years old. Six cases showed multiple bilateral nodules, and only one case showed a single lesion in the lower left lung lobe. Five patients presented with respiratory symptoms, like cough, sputum, hemoptysis, shortness of breath. There were round-like solid lesions with clear border and homogeneous density on lung CT. Histologically, it showed nodular growth with a distinctive myxohyaline stroma. Necrosis was seen in the center of some cases. Epithelioid tumor cells were arranged in cords, solid pattern or single cells, with abundant eosinophilic cytoplasm and occasional intracytoplasmic vacuoles. The plasmacytoid nucleus were round to oval in shape with obvious nucleoli, minimal pleomorphism and few mitoses. The tumor cells were positive for vascular endothelial markers: CD31 (7/7), CD34 (5/7), ERG (6/6), and Fli-1 (5/6); CKpan was focally positive in 3 cases (3/7), and TFE3 in 2 cases. Ki-67 index ranged from 5% to 10%. Additionally, the tumor cells partially express PD-L1 in two cases. Moreover, lung carcinoma-related gene detection was negative in one case. The TFE3 break-apart probe in two cases did not display a split signal. In terms of treatment, 4 cases were treated with surgery, 1 case was treated with chemotherapy and surgery, and 2 cases were follow-up observation. After the median 34.4 months follow-up time, one was lost to follow-up, six were survived. Their CT scans showed slight enlargement of pulmonary nodules without other organ metastases.
ConclusionsPEHE is a rare vascular-derived tumor, which is usually characterized by multiple solid bilateral nodules with slow growth. It tends to lack specific clinical symptoms, and is prone to be misdiagnosed as a metastatic carcinoma. Diagnosis primarily rely on pathology, with the use of an immunohistochemical package being crucial for definitive and differential diagnosis.
李雯,李俊康,郑昕,等. 肺原发性上皮样血管内皮瘤7例临床病理分析[J]. 中华肿瘤杂志,2025,47(03)：269-274.
DOI:10.3760/cma.j.cn112152-20240421-00163版权归中华医学会所有。
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除非特别声明，本刊刊出的所有文章不代表中华医学会和本刊编委会的观点。
李雯：数据采集分析、论文撰写、经费支持；李雯、李俊康：数据整理、文献检索、统计学分析、论文修改；郑昕、陈琳琳：实施研究、采集数据、技术性支持；杨映红：研究设计指导、论文审阅
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