Huang H J, Chen M J, Li X O, Zhong D R
Department of Pathology, Fujian Provincial Hospital, Provincial Clinical Medical College of Fujian Medical University, Fuzhou 350001, China.
Department of Pathology, the First Hospital of Longyan, Longyan 364000, Fujian Province, China.
Zhonghua Bing Li Xue Za Zhi. 2021 Feb 8;50(2):103-107. doi: 10.3760/cma.j.cn112151-20200527-00417.
To investigate the clinicopathological features, differential diagnosis and molecular characteristics of clear cell renal cell carcinoma (ccRCC) with hemangioblastoma component (ccRCC-HBc). 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. 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). 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.
探讨伴有成血管细胞瘤成分的透明细胞肾细胞癌（ccRCC-HBc）的临床病理特征、鉴别诊断及分子特征。纳入2015年9月和2016年3月分别在福建省立医院确诊的2例ccRCC-HBc病例。分析其形态学、免疫组织化学及分子特征，包括对TFE3、TFEB和VHL基因进行荧光原位杂交（FISH）检测。复习相关文献以揭示该肿瘤的特征。2例均发生于女性，年龄分别为33岁和66岁。肿瘤最大直径分别为4.0 cm和8.5 cm。组织学上，ccRCC成分约占肿瘤的10%-20%，肿瘤细胞呈片状、巢状及实性分布。肿瘤细胞有明显核仁，间质中有丰富的薄壁毛细血管网。成血管细胞瘤样成分约占肿瘤的60%-70%，显示由单层扁平内皮细胞围绕间质细胞构成的丰富毛细血管网。后者细胞类型胞质淡染或嗜酸性，偶见脂滴。罕见细胞核增大、异形或怪异。两种成分相互混杂。免疫组织化学方面，ccRCC区域肿瘤细胞PAX8、CKpan、EMA、波形蛋白、CD10、RCC、CAⅨ和P504s呈阳性；另一区域肿瘤细胞α-抑制素、CD34和波形蛋白呈阳性，而CD10弱阳性。2例均未检测到TFE3或TFEB基因分裂信号（0/2），病例2也未检测到VHL基因突变（0/1）。ccRCC-HBc是ccRCC中一种极其罕见的实体。诊断主要基于临床和病理特征以及免疫组织化学。分子病理学有助于诊断。ccRCC-HBc的主要治疗方法是完整手术切除及化疗。如有可能，靶向治疗也有帮助。
