BHD (Birt-Hogg-Dubé)综合征是一种以皮肤纤维瘤、肾肿瘤、肺囊肿和自发性气胸为主要临床表现的常染色体显性遗传疾病。它的诊断依赖特定的临床学表现、影像学特征及遗传学依据等多方面证据。抑癌基因卵巢滤泡激素(Folliculin, FLCN)突变是BHD综合征产生的最主要原因, FLCN与FLCN相互作用蛋白(FLCN-interacting protein, FNIP) 1和2以及AMP活化的蛋白激酶(adenosine monophosphate-activated protein kinase, AMPK)形成复合物, 通过调节哺乳动物雷帕霉素靶蛋白(mammalian target of rapamycin, mTOR)通路, 对BHD综合征的发生发展起重要作用。近年来研究发现, BHD综合征相关肾肿瘤与散发性肾肿瘤及其他遗传相关肾肿瘤存在明显区别。因此, 总结BHD综合征相关肾肿瘤的分子机制和病理学特征, 探讨BHD综合征相关肾肿瘤与散发性肾肿瘤及其他遗传相关肾肿瘤的区别, 将有助于BHD综合征相关肾肿瘤的临床诊断和鉴定, 以及开发出靶向治疗等除了外科手术以外的其他治疗方法。

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.