CYLD蛋白在皮肤附属器肿瘤中的表达和比较研究(1)
[摘要]目的：研究CYLD蛋白在毛发上皮瘤、毛母细胞瘤和汗管瘤等皮肤附属器肿瘤中的分布、表达特征，探索皮肤附属器肿瘤的发病机理。方法：收集毛发上皮瘤、毛母细胞瘤和汗管瘤患者皮损，进行CYLD蛋白免疫组织化学染色，并通过IPP软件测定平均光密度值进行半定量分析。结果：毛发上皮瘤组、毛母细胞瘤组的平均光密度值均低于正常人毛囊对照组(P<0.001)，但毛发上皮瘤组和毛母细胞瘤组CYLD蛋白平均光密度值比较，差异无统计学意义(P>0.05)。汗管瘤组的平均光密度值低于正常人汗腺对照组(P<0.001)。结论：CYLD蛋白表达于正常角质形成细胞(基底层和颗粒层为主)、毛囊、汗腺和皮脂腺的细胞质和细胞核周围区域；毛发上皮瘤、毛母细胞瘤、汗管瘤的肿瘤组织中CYLD蛋白表达水平均显著下降，提示这三种皮肤附属器肿瘤的致病机理可能与CYLD蛋白表达下调有关。
[关键词]CYLD蛋白；毛发上皮瘤；毛母细胞瘤；汗管瘤；光密度值
[中图分类号]R739.5 [文献标志码]A [文章编号]1008-6455(2018)09-0114-04
, http://www.100md.com
Comparison on Expression of CYLD Protein in Trichoepithelioma，Trichoblastoma， Syringoma
YING Zhao-xia，XIAO Sheng-xiang，WANG Yong-xian，ZHOU Jun，REN Jian-wen，HUANG Ying，SONG Liu-mei，FAN Wen-xin，LIU Yan
(Department of Dermatology，the Second Hospital，Xi’an Jiaotong University，Xi’an 710004，Shaanxi，China)
Abstract： Objective To further define the distribution and expression characteristics of the CYLD protein in normal skin and adnexal tumor of skin，to explore the pathogenesis of adnexal tumors of skin. Methods The expression of CYLD protein in trichoepithelioma， trichoblastoma， syringoma and normal skin was detected by immunohistochemistry. IPP softwares were applied to measure mean optical density value for semiquantitative analysis. Results The mean optical density value of CYLD protein in the trichoepithelioma group and the trichoblastoma group was lower than those of the normal hair follicle group， the differences were statistically significant(P<0.001). However， there was no significant difference in the mean optical density value of CYLD protein between the trichoepithelioma group and the trichoblastoma group(P>0.05). The mean optical density value of CYLD protein in the syringoma group was lower than that in the normal sweat glands group(P<0.001). Conclusion This study suggested that CYLD protein was expressed in cytoplasm and the surrounding area of nuclei of normal keratinocyte (mainly in base layer and granular layer)， hair follicles， sweat glands and sebaceous glands. To compared with normal hair follicles and sweat glands， in the tumor tissue， as trichoepithelioma、trichoablastoma and syringoma， CYLD protein expressions were significantly decreased， suggesting that the pathogenesis of the three skin adnexal tumors may be related to the down regulation of CYLD protein expression.
, 百拇医药
Key words： CYLD protein； trichoepithelioma； trichoblastoma； syringoma； optical density value
腫瘤抑制因子头帕肿瘤综合征蛋白(Cylindromatosis，CYLD)是一种去泛素化酶，突变后会引起CYLD蛋白功能缺失，进而影响顶泌汗腺和外分泌腺干细胞的正常分化，可能会导致皮肤附属器细胞生长失衡而诱发各种肿瘤发生[1]。目前研究发现，去泛素化酶CYLD突变可导致多发性家族性毛发上皮瘤(Multiple familial trichoepithelioma，MFT)、家族性圆柱瘤(Familial cylindroma，FC)及Brooke-Spiegler综合征(BSS)，呈常染色体显性遗传，但临床及病理表现不同，这些肿瘤可能是同一单基因病的表型变异[2]。CYLD基因型与临床表型之间的关系、CYLD蛋白功能缺陷引起的病理改变及CYLD突变导致肿瘤发生的机制仍需更深入的研究。毛发上皮瘤和毛母细胞瘤均属于较少见的毛源性良性皮肤附属器肿瘤，而汗管瘤为发病率较高的表皮内小汗腺导管的一种腺瘤，发病原因均不明确，临床缺少可靠治疗手段。因此，为了解CYLD蛋白在毛囊和汗腺为主的皮肤附属器肿瘤中的发病机制，本实验中分析了毛发上皮瘤、毛母细胞瘤和汗管瘤这三种皮肤附属器肿瘤中CYLD蛋白的表达特征，试图探索CYLD蛋白对皮肤附属器肿瘤的影响和作用，揭示皮肤附属器肿瘤的致病机理。, http://www.100md.com(应朝霞 肖生祥 王永贤 周俊 任建文 黄莺 宋刘梅 樊文昕 刘艳)
[关键词]CYLD蛋白；毛发上皮瘤；毛母细胞瘤；汗管瘤；光密度值
[中图分类号]R739.5 [文献标志码]A [文章编号]1008-6455(2018)09-0114-04
, http://www.100md.com
Comparison on Expression of CYLD Protein in Trichoepithelioma，Trichoblastoma， Syringoma
YING Zhao-xia，XIAO Sheng-xiang，WANG Yong-xian，ZHOU Jun，REN Jian-wen，HUANG Ying，SONG Liu-mei，FAN Wen-xin，LIU Yan
(Department of Dermatology，the Second Hospital，Xi’an Jiaotong University，Xi’an 710004，Shaanxi，China)
Abstract： Objective To further define the distribution and expression characteristics of the CYLD protein in normal skin and adnexal tumor of skin，to explore the pathogenesis of adnexal tumors of skin. Methods The expression of CYLD protein in trichoepithelioma， trichoblastoma， syringoma and normal skin was detected by immunohistochemistry. IPP softwares were applied to measure mean optical density value for semiquantitative analysis. Results The mean optical density value of CYLD protein in the trichoepithelioma group and the trichoblastoma group was lower than those of the normal hair follicle group， the differences were statistically significant(P<0.001). However， there was no significant difference in the mean optical density value of CYLD protein between the trichoepithelioma group and the trichoblastoma group(P>0.05). The mean optical density value of CYLD protein in the syringoma group was lower than that in the normal sweat glands group(P<0.001). Conclusion This study suggested that CYLD protein was expressed in cytoplasm and the surrounding area of nuclei of normal keratinocyte (mainly in base layer and granular layer)， hair follicles， sweat glands and sebaceous glands. To compared with normal hair follicles and sweat glands， in the tumor tissue， as trichoepithelioma、trichoablastoma and syringoma， CYLD protein expressions were significantly decreased， suggesting that the pathogenesis of the three skin adnexal tumors may be related to the down regulation of CYLD protein expression.
, 百拇医药
Key words： CYLD protein； trichoepithelioma； trichoblastoma； syringoma； optical density value
腫瘤抑制因子头帕肿瘤综合征蛋白(Cylindromatosis，CYLD)是一种去泛素化酶，突变后会引起CYLD蛋白功能缺失，进而影响顶泌汗腺和外分泌腺干细胞的正常分化，可能会导致皮肤附属器细胞生长失衡而诱发各种肿瘤发生[1]。目前研究发现，去泛素化酶CYLD突变可导致多发性家族性毛发上皮瘤(Multiple familial trichoepithelioma，MFT)、家族性圆柱瘤(Familial cylindroma，FC)及Brooke-Spiegler综合征(BSS)，呈常染色体显性遗传，但临床及病理表现不同，这些肿瘤可能是同一单基因病的表型变异[2]。CYLD基因型与临床表型之间的关系、CYLD蛋白功能缺陷引起的病理改变及CYLD突变导致肿瘤发生的机制仍需更深入的研究。毛发上皮瘤和毛母细胞瘤均属于较少见的毛源性良性皮肤附属器肿瘤，而汗管瘤为发病率较高的表皮内小汗腺导管的一种腺瘤，发病原因均不明确，临床缺少可靠治疗手段。因此，为了解CYLD蛋白在毛囊和汗腺为主的皮肤附属器肿瘤中的发病机制，本实验中分析了毛发上皮瘤、毛母细胞瘤和汗管瘤这三种皮肤附属器肿瘤中CYLD蛋白的表达特征，试图探索CYLD蛋白对皮肤附属器肿瘤的影响和作用，揭示皮肤附属器肿瘤的致病机理。, http://www.100md.com(应朝霞 肖生祥 王永贤 周俊 任建文 黄莺 宋刘梅 樊文昕 刘艳)