摘要目的:探讨伴血管母细胞瘤成分肾透明细胞癌［clear cell renal cell carcinoma （ccRCC） with hemangioblastoma（HB） component， ccRCC-HBc］的临床病理及分子学特征。方法:收集2015年9月和2016年3月福建省立医院手术切除标本及会诊病例共2例ccRCC-HBc，进行HE、免疫组织化学染色，荧光原位杂交（FISH）检测TFE3、TFEB及VHL基因，并进行文献复习。结果:2例女性，年龄分别为33和66岁，肿块大小4.0 cm和8.5 cm。病理组织学上2例肿瘤可见明确ccRCC区域，部分区呈血管母细胞瘤（HB）样表现，见增生的毛细血管，细胞多变，胞质透明、空泡样，两种成分相互移行。免疫表型上，ccRCC区瘤细胞呈PAX8、广谱细胞角蛋白（CKpan）、上皮细胞膜抗原（EMA）、波形蛋白、CD10、肾细胞癌标志物（RCC）、碳酸酐酶Ⅸ（CAⅨ）、P504s阳性；HB样区域α抑制素、CD34、波形蛋白阳性，CD10弱阳性。FISH均未检测到TFE3、TFEB基因分离信号（0/2），例2未检测到VHL基因突变（0/1）。结论:ccRCC-HBc属于ccRCC一种罕见的变异亚型，确诊依靠临床病理学、免疫组织化学，必要时行分子病理检测有助鉴别。治疗以手术切除为主，并辅以化疗，必要时行靶向治疗。

abstractsObjective:To investigate the clinicopathological features, differential diagnosis and molecular characteristics of clear cell renal cell carcinoma (ccRCC) with hemangioblastoma component (ccRCC-HBc).Methods:Two ccRCC-HBc cases diagnosed at Fujian Provincial Hospital in September 2015 and March 2016, respectively, were included. Their morphological, immunohistochemical and molecular features were analyzed, including fluorescence in situ hybridization (FISH) detection of TFE3, TFEB and VHL genes. Related literature was reviewed to reveal the characteristics of this tumor.Results:The two cases occurred in 2 women, aged 33 and 66 years, respectively. The maximum diameters of the tumors were 4.0 cm and 8.5 cm, respectively. Histologically, the ccRCC component, representing approximate 10%-20% of the neoplasm, while the tumor cells arranged in flaky, nested, and solid distribution. The tumor cells had conspicuous nucleoli, with rich thin-wall capillary network in the stroma. The hemangioblastoma-like component, representing approximate 60%-70% of the neoplasm, showed a rich capillary network of single-layered flat endothelial cells enclosing stromal cells. The latter cell type showed a pale or eosinophilic cytoplasm exhibiting occasional lipid droplets. Rare cell nuclei appeared enlarged, pleomorphic, or bizarre. The two components were intermingled with each other. Immunohistochemically, the tumor cells were positive for PAX8, CKpan, EMA, vimentin, CD10, RCC, CAⅨ, and P504s in ccRCC area; in another area, the tumor cells were positive for α-inhibin, CD34 and vimentin, while CD10 were weakly positive. Neither TFE3 or TFEB gene split signal was detected in the 2 cases (0/2), nor was VHL gene mutation in case 2 (0/1).Conclusion:ccRCC-HBc is an extremely rare entity of ccRCC. The diagnosis is mainly based on clinical and pathological characteristics, as well as immunohistochemistry. Molecular pathology is helpful for its differential diagnosis. The primary approach of treating ccRCC-HBc is complete surgical excision and chemotherapy. The targeted treatment is helpful if possible.