Objective: To investigate the clinicopathological features of perivascular epithelioid cell tumor (PEComa) of the lung. Methods: Eight PEComa cases of the lung diagnosed at the First Affiliated Hospital of Soochow University, Suzhou, China from July 2008 to December 2021 were collected and subject to immunohistochemical staining, fluorescence in situ hybridization and next generation sequencing. The relevant literature was reviewed and the clinicopathological features were analyzed. Results: There were 5 males and 3 females, aged from 18 to 70 years (mean 39 years). There were 3 cases of the right upper lung, 3 cases of the left lower lung, 1 case of the left upper lung and 1 case of the right middle lung. Seven cases were solitary and 1 case was multifocal (4 lesions). Seven cases were benign while one was malignant. The tumors were all located in the peripheral part of the lung, with a maximum diameter of 0.2-4.0 cm. Grossly, they were oval and well circumscribed. Microscopically, the tumor cells were oval, short spindle-shaped, arranged in solid nests, acinar or hemangiopericytoma-like patterns, with clear or eosinophilic cytoplasm. The stroma was rich in blood vessels with hyalinization. Coagulated necrosis and high-grade nuclei were seen in the malignant case, and calcification was seen in 2 cases. Immunohistochemically, the tumor cells were positive for Melan A (8/8), HMB45 (7/8), CD34 (6/8), TFE3 (4/7), and SMA (3/8). All cases were negative for CKpan and S-100. TFE3 (Xp11.2) gene fusion was examined using the TFE3 break-apart fluorescence in situ hybridization in 5 cases, in which only the malignant case was positive. The next generation sequencing revealed the SFPQ-TFE3 [t(X;1)(p11.2;p34)] fusion. Follow-up of the patients ranged from 12 to 173 months while one patient was lost to the follow-up. The malignant case had tumor metastasis to the brain 4 years after the operation and then received radiotherapy. Other 6 cases had no recurrence and metastasis, and all the 7 patients survived. Conclusions: Most of the PEComas of the lung are benign. When there are malignant morphological features such as necrosis, high-grade nuclei or SFPQ-TFE3 gene fusion, close follow-up seems necessary.
目的： 探讨肺血管周上皮样细胞肿瘤（perivascular epithelioid cell tumor，PEComa）的临床病理学特征。 方法： 收集苏州大学附属第一医院2008年7月至2021年12月诊断的8例肺PEComa患者的资料，行免疫组织化学检测、荧光原位杂交（FISH）检测和二代测序，复习相关文献，分析其临床病理学特征。 结果： 8例中男性5例，女性3例；年龄18~70岁（平均年龄39岁）；右上肺3例，左下肺3例，左上肺和右中肺各1例；1例多发（4灶），1例为恶性；肿瘤位于肺周边部，最大径0.2~4.0 cm，大体呈卵圆形，界限清楚。镜下观察瘤细胞呈卵圆形、短梭形，排列呈实性巢状、腺泡状或血管外皮瘤样，胞质透亮或嗜酸，间质血管丰富伴玻璃样变性，恶性病例见凝固性坏死及高级别核，2例见钙化，免疫组织化学上瘤细胞均表达Melan A（8/8），7例表达HMB45（7/8），6例表达CD34（6/8），4例弥漫性表达TFE3（4/7），3例表达平滑肌肌动蛋白（3/8），8例均不表达广谱细胞角蛋白及S-100蛋白。应用FISH对其中5例行TFE3（Xp11.2）基因断裂探针检测，其中恶性病例阳性，对该病例行二代测序检测显示SFPQ-TFE3［t（X；1）（p11.2；p34）］基因融合。7例获得随访资料，1例失访，随访12~173个月，恶性病例患者术后4年肿瘤转移至颅内，后行放疗，余6例均无复发或转移，7例患者均存活。 结论： 肺PEComa多为良性，当出现坏死、高级别核等恶性形态学特征或出现SFPQ-TFE3基因融合时，需密切随访。.