Hudler Petra, Urbancic Mojca
Medical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
Eye Hospital, University Medical Centre Ljubljana, Grabloviceva ulica 46, 1000 Ljubljana, Slovenia.
Genes (Basel). 2022 Feb 17;13(2):362. doi: 10.3390/genes13020362.
Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the tumor suppressor gene on chromosome 3. VHL is involved, through the EPO-VHL-HIF signaling axis, in oxygen sensing and adaptive response to hypoxia, as well as in numerous HIF-independent pathways. The diverse roles of VHL confirm its implication in several crucial cellular processes. VHL variations have been associated with the development of VHL disease and erythrocytosis. The association between genotypes and phenotypes still remains ambiguous for the majority of mutations. It appears that there is a distinction between erythrocytosis-causing VHL variations and VHL variations causing VHL disease with tumor development. Understanding the pathogenic effects of variants might better predict the prognosis and optimize management of the patient.
冯·希佩尔-林道病（VHL病或VHL综合征）是一种家族性多系统肿瘤综合征，源于3号染色体上肿瘤抑制基因的种系疾病相关变异。VHL通过EPO-VHL-HIF信号轴参与氧感应和对缺氧的适应性反应，以及许多不依赖HIF的途径。VHL的多种作用证实了其在几个关键细胞过程中的作用。VHL变异与VHL病和红细胞增多症的发生有关。对于大多数突变，基因型和表型之间的关联仍然不明确。似乎导致红细胞增多症的VHL变异与导致伴有肿瘤发生的VHL病的VHL变异之间存在区别。了解变异的致病作用可能更好地预测预后并优化患者的管理。
