Li Z L, Guan H H, Xiao X M, Hui Y, Jia W X, Yu R X, Chen H, Li C R
Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
Department of Dermatology, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu Province, China.
Genet Mol Res. 2014 Nov 14;13(4):9650-5. doi: 10.4238/2014.November.14.10.
Trichoepithelioma is a benign neoplasm that primarily shows follicular germinative differentiation. Classic trichoepithelioma typically presents as a skin-colored papule or nodule on the face or upper trunk; lesions have a predilection for the nose. Trichoepithelioma can be sporadic or familial and solitary or multiple. Most previously reported multiple trichoepithelioma cases are familial, and germline CYLD mutations could be detected in some patients. We performed mutational analysis of the germline CYLD gene in 8 Chinese multiple trichoepitheliomas patients, 6 of which were sporadic cases. A heterozygous missense mutation (c.1112C>A) in the 9th exon of the CYLD gene was detected in some mother-daughter patients. However, the germline CYLD mutation could not be detected in the 6 non-familial cases. The results suggest that the pathogenesis of sporadic multiple trichoepitheliomas may differ from that of familial cases. Our findings also further confirmed the genetic heterogeneity of multiple trichoepitheliomas.
毛发上皮瘤是一种主要表现为毛囊生发分化的良性肿瘤。经典毛发上皮瘤通常表现为面部或上躯干的肤色丘疹或结节；病变好发于鼻部。毛发上皮瘤可散发或呈家族性，可为单发或多发。既往报道的大多数多发性毛发上皮瘤病例为家族性，部分患者可检测到种系CYLD基因突变。我们对8例中国多发性毛发上皮瘤患者的种系CYLD基因进行了突变分析，其中6例为散发病例。在一些母女患者中检测到CYLD基因第9外显子的杂合错义突变（c.1112C>A）。然而，在6例非家族性病例中未检测到种系CYLD突变。结果提示散发性多发性毛发上皮瘤的发病机制可能与家族性病例不同。我们的研究结果也进一步证实了多发性毛发上皮瘤的遗传异质性。
