A diagnosis of clear cell chondrosarcoma of the ulna was made in a patient with Von Hippel-Lindau disease (VHL). After surgery, genetic analysis of the tumor tissue showed loss of heterozygosity at the VHL gene locus. Immunohistochemical analysis confirmed loss of expression of the VHL protein in the tumor cells. In addition, abundant Cyclin D1 expression in the tumor was observed. Chondrosarcoma has been described before in a VHL patient and VHL protein expression has been correlated to tumor grade in a series of sporadic chondrosarcomas. In this report, we show that clear cell chondrosarcoma may be a rare but canonical VHL manifestation through a cell-autonomous mechanism involving somatic loss-of-heterozygosity of the VHL tumor suppressor gene. We discuss the relevance of this observation with regard to the pathogenesis of clear cell chondrosarcoma in the context of VHL.

中文翻译：

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Von Hippel-Lindau病中的透明细胞软骨肉瘤。

对患有Von Hippel-Lindau病（VHL）的患者进行了尺骨透明细胞软骨肉瘤的诊断。手术后，对肿瘤组织的遗传分析显示VHL基因位点杂合性丧失。免疫组织化学分析证实了肿瘤细胞中VHL蛋白的表达缺失。另外，在肿瘤中观察到大量的Cyclin D1表达。先前已经在VHL患者中描述了软骨肉瘤，并且在一系列散发性软骨肉瘤中，VHL蛋白表达已与肿瘤分级相关。在本报告中，我们显示透明细胞软骨肉瘤可能是一种罕见的但典型的VHL表现，其通过涉及VHL体细胞杂合性丧失的细胞自主机制肿瘤抑制基因。我们讨论有关在VHL的情况下透明细胞软骨肉瘤的发病机制这一观察的相关性。