Yang Xiang, Liu Xue-Song, Fang Yuan, Zhang Xiu-Hui, Zhang Yue-Kang
Department of Neurosurgery, West China Hospital of Sichuan University No. 37, Guoxue Alley, Chengdu, 610041, Sichuan Province, China.
Department of Pathology, West China Hospital of Sichuan University No. 37, Guoxue Alley, Chengdu, 610041, Sichuan Province, China.
Int J Clin Exp Pathol. 2014 Apr 15;7(5):2609-14. eCollection 2014.
The authors described a case of a patient with co-existing endolymphatic sac tumor (ELST) and hemangioblastoma in the posterior cranial fossa, which belonged to a subtype of Von Hippel-Lindau (VHL) disease confirmed by the test of VHL-gene. The signs in this 42-year-old female included intermittent headache and dizziness. Imaging revealed a giant mass in the right cerebellopontine angle (CPA) region and another lesion in the left cerebellar hemisphere. The results of biopsy after two operations confirmed the diagnosis respectively. Both of the tumors were resected totally. Nevertheless, we had to confess the misdiagnosis as vascular tumor instead of ELST at the initial diagnosis because of the rarity of ELST associated with atypical histological characteristics. The purposes we reported this case were to describe the atypical pathological feature of ELST and the mutation of germline VHL not mentioned in previously literature, furthermore, to foster understanding of ELSTs with the avoidance of the similar misdiagnosis as far as possible in future.
作者描述了一例在后颅窝同时存在内淋巴囊瘤（ELST）和成血管细胞瘤的患者，该患者经VHL基因检测确诊为冯·希佩尔－林道（VHL）病的一种亚型。这位42岁女性的症状包括间歇性头痛和头晕。影像学检查显示右侧小脑脑桥角（CPA）区域有一个巨大肿块，左侧小脑半球有另一个病灶。两次手术后的活检结果分别证实了诊断。两个肿瘤均被完全切除。然而，由于ELST罕见且具有非典型组织学特征，我们不得不承认在初始诊断时误诊为血管肿瘤而非ELST。我们报告此病例的目的是描述ELST的非典型病理特征以及此前文献未提及的种系VHL突变，此外，促进对ELST的认识，以便在未来尽可能避免类似的误诊。
