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

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.