CYLD基因与皮肤附属器肿瘤的研究进展  

CYLD genes and skin appendage tumors

作　　者：梅沁[1] 赵小燕[2] 程波[1] 黄一锦[2] 

机构地区：[1]福建医科大学附属第一医院皮肤科,福州350005 [2]厦门大学附属第一医院皮肤科

出　　处：《国际皮肤性病学杂志》2011年第5期314-316,共3页International Journal of Dermatology and Venereology

基　　金：厦门市科技计划项目（3502Z20089005）

摘　　要：圆柱瘤、毛发上皮瘤、Brooke—Spiegler综合征均是临床少见的呈常染色体显性遗传的皮肤附属器肿瘤，其发生与CYLD基因突变密切相关。CYLD是一种肿瘤抑制基因，编码去泛素化蛋白酶，通过去泛素化核因子κB抑制蛋白激酶复合体的调节亚基、肿瘤坏死因子受体相关因子等信号分子负性调节核因子-κB途径，从而抑制肿瘤的发生。概述CYLD基因与皮肤附属器肿瘤的发生、基因型与表型的关系、皮肤肿瘤的治疗新进展。Cylindromatosis, trichoepithelioma and Brooke -Spiegler syndrome are rare autosomal dominant tumors of skin appendages. As a tumor suppressor, CYLD gene mutation is closely related to the occurrence of these tumors. The CYLD gene encodes a deubiqutination enzyme which can negatively regulate nuclear factor （NF）-κB signaling pathway and suppress the initiation of tumors by deubiquitinating the tumor necrosis factor receptor-associated factor （TRAF） and the regulatory subunit of Ikappa B kinase complex. This review describes the advances in the researches in CYLD gene mutations in, genotype-phenotype correlation in, as well as the treatment of skin appendage tumors.

关 键 词：基因 CYLD 肿瘤 附件和皮肤附件 基因型 表型 

分 类 号：R739.5[医药卫生—肿瘤]