FH基因在遗传性平滑肌瘤病及肾癌综合征中的研究进展  

Progress of Furmarate Hydratase Gene Mutation in Hereditary Leiomyomatosis and Renal Cell Cancer

作　　者：周婷婷[1] 邢金春[1] 

机构地区：[1]福建医科大学第一临床医学院,福州350004

出　　处：《医学综述》2014年第5期881-884,共4页Medical Recapitulate

摘　　要：遗传性平滑肌瘤及肾细胞癌(HLRCC)综合征不同于普通家族性肾癌,其肾肿瘤比其他类型的家族性肾癌更具侵袭性。延胡索酸水化酶(FH)基因突变导致"假缺氧"驱动机制不依赖低氧环境的低氧诱导因子2α(HIF-2α)的稳定表达,这可能是HLRCC的生物学发病机制。该文就FH基因突变、HIF-α表达及其肿瘤作用机制,与其相关的核转录因子Nrf2基因失活的新观点进行阐述。Hereditary leiomyomatosis and renal cell eancer（ HLRCC ） ,is known as a different kind from ordinary heredofamilial cancer, and is more aggressive than other types. Fumarate hydratase （FH） -associated tumorigenesis lead to pseudohypoxic drive mechanism, which is independent from HIF-2 a stable expression in low oxygen, and may be the biological pathogenesis of HLRCC. Here is to make a review of FH gene muta- tions, HIF-α expression and its tumor mechanism,as well as the recent view of relevant Nrf2 gene inactivation.

关 键 词：延胡索酸水化酶基因 低氧诱导因子2α 脯氨酸羟化酶 核转录因子Nrf2 血管内皮生长因子 

分 类 号：R737.11[医药卫生—肿瘤]