Advances in Genetics of Von Hippel-Lindau Disease and Its Related Treatments
10.12376/j.issn.2097-0501.2024.03.017
- VernacularTitle:Von Hippel-Lindau病的遗传学及其相关治疗研究进展
- Author:
Tianyi LI
1
;
Anli TONG
Author Information
1. 中国医学科学院北京协和医院内分泌科卫健委内分泌重点实验室,北京 100730
- Keywords:
rare diseases;
von Hippel-Lindau disease;
genetic variation
- From:
JOURNAL OF RARE DISEASES
2024;3(3):381-386
- CountryChina
- Language:Chinese
-
Abstract:
Von Hippel-Lindau disease(VHL disease)is a hereditary tumor syndrome caused by VHL mutations.VHL disease-related tumors are often multiple and mostly treated by surgery.However,they often relapse after surgery.The VHL gene functions as a tumor suppressor through both hypoxia-inducible factor(HIF)dependent and HIF-independent pathway.Research on the genetic mechanisms of VHL disease has laid the foundation for the treatment of the disease.In recent years,the targeted drugs based on the genetic mechanism of VHL disease have provided a new approach for the treatment of the disease.Small molecule tar-geted drugs such as belzutifan and tyrosine kinase inhibitors,which act on the hypoxia signaling pathway,have shown excellent prospects for the treatment of VHL disease.The study aimed to summarize the genetic mechanisms and advances in related treatment of VHL disease.More in-depth clinical research on targeted drugs for VHL disease will provide more treatment options for the patients.
