Objective: To investigate the clinicopathological features of pulmonary epithelioid hemangioendothelioma (PEHE). Methods: Eighteen cases of PEHE were collected from August 2011 to December 2018 at the First Affiliated Hospital of Zhengzhou University. All cases were retrospectively studied by hematoxylin and eosin staining and immunohistochemistry (IHC). The clinicopathological features were reviewed; the status of CAMTA1 and TFE3 gene was analyzed and patients' outcome was followed up. Results: Of the 18 cases, there were 11 males and 7 females with a male to female ratio of 1.6 to 1.0. The patients' age ranged from 36 to 68 years (mean 52 years). Twelve cases (12/18) showed a single nodule and six cases (6/18) showed multiple bilateral nodules. Seven cases (7/18) involved other organs besides lung. Seventeen (17/18) patients presented with respiratory symptoms and one patient (1/18) presented with abdominal pain. Grossly, the tumors were greyish-white nodules with indistinct borders. Microscopically the tumor cells were epithelioid and arranged in strands and nests, and cytoplasmic vacuoles were commonly noted. The stroma was myxochondroid or hyaline. By IHC, the tumor cells were positive for CD31(18/18), CD34 (16/18), ERG (18/18) and Fli-1 (18/18); CKpan was focally positive in 5 cases (5/18). TFE3 was positive in 3 cases (3/18), and Ki-67 index ranged from 5% to 30%. FISH analysis showed seventeen cases (17/18) had CAMAT1 rearrangement, one case had TFE3 rearrangement displaying a split signal. Eight patients (8/18) had surgical excision, three patients (3/18) had surgery and chemotherapy, and seven patients (7/18) had chemotherapy only. Four patients (4/18) died of the disease. Conclusions: Patients with PEHE have non-specific symptoms, and correct diagnosis depends on pathologic biopsy and the exclusion of other tumors with epithelioid morphology. Some patients with PEHE have poor prognosis, particularly in those who have multiple nodules, peripheral invasion or metastasis.
目的： 探讨肺上皮样血管内皮瘤（pulmonary epithelioid hemangioendothelioma，PEHE）的临床病理特征及预后。 方法： 分析2011年8月至2018年12月郑州大学第一附属医院PEHE 18例，进行常规HE染色，免疫组织化学染色，总结临床病理特征，并随访患者生存情况。用荧光原位杂交（FISH）法对18例进行CAMTA1基因检测，对3例免疫组织化学TFE3阳性病例进行TFE3基因检测。 结果： 18例PEHE中，男11例，女7例，男女比例为1.6∶1.0，年龄36~68岁，平均年龄52岁。12例（12/18）为肺内单发结节，6例（6/18）为双肺多发结节。7例（7/18）有肺外其他器官受累。17例（17/18）患者有呼吸系统症状，1例（1/18）患者表现为腹痛。大体均表现为灰白色结节，界限不清。镜下观察：黏液或者软骨样的基质中见上皮样的细胞排列呈条索状或者小巢状,可见胞质内空泡。免疫组织化学染色显示肿瘤表达CD31（18/18）、CD34（16/18）、ERG（18/18）、Fli-1（18/18），5例（5/18）局灶表达广谱细胞角蛋白，3例（3/18）TFE3阳性，Ki-67阳性指数5%~30%。FISH检测17例（17/18）CAMTA1基因断裂，3例免疫组织化学表达TFE3病例中1例TFE3基因断裂。治疗方法：手术治疗8例，手术辅助化疗3例，单纯化疗7例。15例获得预后资料的患者中4例死亡。 结论： PEHE症状缺乏特异性，确诊有赖于病理学活检，在肺内需和多种肺部肿瘤鉴别。部分患者预后差，肿瘤多发、侵犯周围器官及远处转移可能与预后不良有关。.
Keywords: CAMTA1 gene; Hemangioendothelioma; Lung neoplasms; TFE3 gene.