CYLD基因无突变的多发性毛发上皮瘤2例与文献复习  

Two Case Reports of Sporadic Multiple Trichoepithelioma and Gene Detection

作　　者：惠云[1] 管海宏[1] 贾韦雪 曾荣[2] 于瑞星[2] 陈浩[2] 张国毅[2] 毛秋霞 李诚让[2] 

机构地区：[1]南京军区南京总医院皮肤科,江苏南京210002 [2]中国医学科学院北京协和医学院皮肤病研究所,江苏南京210042

出　　处：《中国皮肤性病学杂志》2014年第9期885-888,共4页The Chinese Journal of Dermatovenereology

基　　金：协和创新团队基金;协和教学与研究基金(2011zlgc0114;303-05-8050)

摘　　要：目的分析散发性多发性毛发上皮瘤的临床特点,检测散发性多发性毛发上皮瘤的致病基因,并回顾性分析国内外毛发上皮瘤的文献。方法采集患者的外周血,应用外周血细胞DNA提取、PCR扩增和DNA直接测序等方法分别检测CYLD基因突变情况。结果病理检查示:真皮中上层多个基底样瘤细胞团,瘤团区域见数个角囊肿,瘤基质中未见明显的收缩间隙,符合毛发上皮瘤的诊断。本实验中未检测到CYLD基因的突变位点。结论毛发上皮瘤患者,尤其是散发病例的CYLD基因突变率低,毛发上皮瘤的致病基因可能存在其他的基因突变位点,其次可能存在遗传异质性。Objective To detect the genetic mutation of sporadic multiple trichoepithelioma and summarize clinical features through analyzing retrospectively the literatures. Methods The patients were recruited into this study with informed consent. Genomic DNA was extracted from blood samples taken from the patient. All exons and exon-intron boundaries of the gene were amplified by PCR followed by direct sequencing via dye-termination chemistry. Results The results of histopathology showed multiple basal-like tumor cell mass in the middle and upper dermis and several keratinous cysts in the cell mass area, with tumor matrix surrounded by obvious fibrous stroma surrounding without evident contracting clearance. The final diagnosis was trichoepithelioma. No genetic mutation about the CYLD was detected. Conclusion CYLD gene mutation rate is very low, maybe another genetic mutation or genetic heterogeneity exist in trichoepithelima.

关 键 词：毛发上皮瘤 CYLD基因 

分 类 号：R739.5[医药卫生—肿瘤]