Reuven Bergman, Margarita Indelman, Dov Hershkovitz, Ziad Khamaysi
Department of Dermatology, Rambam Health Care Campus, Haifa, Israel.
Am J Dermatopathol. 2013 Jun;35(4):445-7. doi: 10.1097/DAD.0b013e31827132af.
Multiple trichoepitheliomas (TEs), especially in the familial setting, have been associated with germline heterozygous mutations in the CYLD gene. Heterozygous germline CYLD mutations and loss of heterozygosity of the CYLD gene in the TE tumor cells have been recently demonstrated in some of the multiple TE cases irrespective of a family history. The histopathological differential diagnosis of TE from basal cell carcinoma may be difficult especially in cases with multiple TEs. Immunohistochemical markers may be used, although some with conflicting results. We describe a 35-year-old woman with multiple facial TEs, in whom the molecular genetic analysis revealed a novel heterozygous c.1843delT mutation in the CYLD gene. This frameshift mutation was also present in a heterozygous state in the TE tumor cells. The demonstration of a novel CYLD mutation was used as an adjunct to the histopathological diagnosis in this case.
多发性毛发上皮瘤（TEs），尤其是在家族性情况下，与CYLD基因的种系杂合突变有关。最近在一些多发性TE病例中，无论有无家族史，均已证实在TE肿瘤细胞中存在种系CYLD杂合突变和CYLD基因杂合性缺失。从组织病理学上鉴别TE与基底细胞癌可能很困难，尤其是在多发性TE的病例中。免疫组化标记物可能有用，尽管有些结果相互矛盾。我们描述了一名35岁患有多发性面部TE的女性，其分子遗传学分析显示CYLD基因存在一种新的杂合c.1843delT突变。这种移码突变在TE肿瘤细胞中也以杂合状态存在。在该病例中，新的CYLD突变的证实被用作组织病理学诊断的辅助手段。
