Research Advances in BHD Syndrome-associated Renal Tumors
1. Department of Cell Biology, School of Life Sciences, Central South University, Changsha 410017, Hunan, China; 2. Department of Nephrology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan China; 3. Department of Respiratory Medicine, the Second Xiangya Hospital, Central South University, Changsha 410011, Hunan, China
Abstract：Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant genetic disorder characterized by der-matofibroma, renal tumor, pulmonary cyst and spontaneous pneumothorax. At present, diagnosis of BHD syn-drome is based on clinical manifestations, imaging features and genetic evidence. Mutations in Folliculin (FLCN), a tumor suppressor gene, are the main genetic lesion that causes BDH syndrome. The FLCN protein can form a complex with FLCN-interacting protein 1 (FNIP1), FNIP2 and adenosine monophosphate-activated protein kinase (AMPK), acting on occurrence and development of BDH syndrome by regulating mammalian target of rapamycin (mTOR) pathway. Recent studies have found that obvious differences exist in BHD syn-drome-associated renal tumors, sporadic renal tumors and other genetically related renal tumors. Herein, the molecular mechanism and pathological characteristics of BHD syndrome-associated renal tumors were sum-marized, and the differences between BHD syndrome-associated renal tumors and other renal tumors were discussed, hoping to give some reference in clinical diagnosis of BHD syndrome-associated renal tumors and development of effective targeted therapies in addition to surgery.
盛 月, 陆光琴, 刘纪实, 范亮亮, 柳 律. BHD综合征相关的肾肿瘤研究进展[J]. 生命科学研究, 2023, 27(2): 155-161.
SHENG Yue, LU Guangqin, LIU Jishi, FAN Liangliang, LIU Lü. Research Advances in BHD Syndrome-associated Renal Tumors. Life Science Research, 2023, 27(2): 155-161.
