Wu Yong, Wang Tao, Zhang Pei-Pei, Yang Xiaoqun, Wang Jian, Wang Chao-Fu
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
J Clin Pathol. 2015 Dec;68(12):1020-5. doi: 10.1136/jclinpath-2015-202900. Epub 2015 Jul 22.
Hemangioblastoma is a benign cerebellar tumour which may occur as a sporadic entity or in association with von Hippel-Lindau (VHL) disease in approximately 25% of cases. Renal hemangioblastoma (RH) is an extremely rare and newly recognised tumour. Here, we describe five cases of RH, one discovered by CT in an accident and the other four detected during routine examinations.
Five cases of renal hemangioblastoma retrieved from the Department of Pathology, Fudan University Shanghai Cancer Center were studied and the literatures were reviewed. Immunohistochemistry was used to differentiate and confirm this tumour.
Pathological examination following tumour resection revealed RH in all cases, the first patient was also diagnosed with renal cell carcinoma (RCC), suggesting the possibility of VHL syndrome, but PCR sequencing analysis of the VHL gene confirmed no mutation in any of the three exons, implying sporadic disease. Histologically, the tumours were circumscribed, composed of sheets of oval or polygonal cells and a prominent vascular network. Tumour cells had pleomorphic nuclei, but mitotic figures were rare. The diagnosis of hemangioblastoma was confirmed by immunohistochemistry.
RH is very rare and is challenging to differentially diagnose. Distinguishing RCC and RH is difficult and each has a different prognosis, so differentiating between them is essential for avoiding over-diagnosis and unnecessary treatment.
成血管细胞瘤是一种良性小脑肿瘤，可散发出现，约25%的病例与冯·希佩尔-林道（VHL）病相关。肾成血管细胞瘤（RH）是一种极其罕见且新发现的肿瘤。在此，我们描述5例RH，1例在意外事故中经CT发现，另外4例在常规检查中被检测到。
对复旦大学附属肿瘤医院病理科检索出的5例肾成血管细胞瘤病例进行研究，并复习相关文献。采用免疫组织化学方法对该肿瘤进行鉴别和确诊。
肿瘤切除后的病理检查显示所有病例均为RH，首例患者还被诊断为肾细胞癌（RCC），提示可能存在VHL综合征，但VHL基因的PCR测序分析证实三个外显子均无突变，提示为散发性疾病。组织学上，肿瘤边界清晰，由成片的椭圆形或多边形细胞和显著的血管网络组成。肿瘤细胞核具有多形性，但有丝分裂象罕见。免疫组织化学证实为成血管细胞瘤。
RH非常罕见，鉴别诊断具有挑战性。区分RCC和RH很困难，且二者预后不同，因此对它们进行鉴别对于避免过度诊断和不必要的治疗至关重要。
