Nonsolitary Giant Perianal Trichoepithelioma With Malignant Transformation Into Basal Cell Carcinoma: Report of a Case and Review of the Literature

Trichoepitheliomas are benign cutaneous tumors that originate from hair follicles and present in two clinical forms. Multiple trichoepithelioma has autosomal transmission and is dominant as a result of the loss of heterozygosity in the 9p21 region, whereas the giant form is solitary, nonhereditary, and rarely affects the perianal region. Diagnostic differentiation from basal cell carcinoma presents notable difficulty, and the use of immunohistochemical studies often is necessary for correct differentiation. The concomitant presence of giant solitary trichoepithelioma and basal cell carcinoma raises the question of whether there is the possibility of malignant transformation, or if it is simply an encounter between the two types of neoplasia. The objective of the present study was to report on a patient who had the two clinical forms of trichoepithelioma (multiple trichoepithelioma and giant solitary trichoepithelioma) in the perianal region, without hereditary antecedents. In this case, the transformation of the largest-sized lesion into basal cell carcinoma was observed. The lesions were studied by means of histopathologic and immunohistochemical studies to investigate the bcl-2 oncogene. The tissue expression characteristics for bcl-2 and the histopathologic examination allowed the diagnosis of multiple trichoepithelioma in the smaller lesions and nonsolitary giant trichoepithelioma with malignant transformation into basal cell carcinoma in the largest-sized lesion. After surgical excision and adjuvant radiotherapy, the patient is now asymptomatic, without signs of relapse, eight months after the surgery.Presented at the meeting of the Brazilian Society of Coloproctology, Ouro Preto, Minas Gerais, Brazil, September 13 to 17, 2002.     

角化型基底细胞癌与毛发上皮瘤细胞核DNA含量测定

利用图像分析技术对３０例角化型基底细胞癌及３０例毛发上皮瘤组织病理相似部分基底样细胞瘤块进行细胞核ＤＮＡ含量分析。结果显示角化型基底细胞部组有异倍体１６例，毛发上皮瘤组３０例均为二倍体。前者显示恶性生物学行为，而后者呈良性生物学行为。     

多发性家族性毛发上皮瘤致病基因的确定

目的 对多发性家族性毛发上皮瘤一家系进行基因定位及候选基因突变检测。方法 共用18对覆盖9p21和16q12-q13的微卫星标记对一个多发性家族性毛发上皮瘤家系进行局部基因组扫描,并用Linkage软件进行两点参数连锁分析,最后PCR扩增CYLD1基因的17个编码外显子及其邻近剪接子并进行双向直接测序。结果 ①两点参数连锁分析在常染色体显性遗传模式下,外显率为99.9%、基因频率0.00001时在D16S3068位点处得出LOD值=3.31(θ=0.00),排除与9号染色体连锁;②突变分析在CYLD1基因第18号外显子出现连续的4个碱基缺失,即c.2355-2358delCAGA。结论 多发性家族性毛发上皮瘤存在着遗传异质性,本家系的致病基因位于16q12-q13,而不在9p21。     

多发性毛发上皮瘤临床病理分析

对１３例多发性毛上皮瘤进行了临床病理的回顾性分析。１３例中，男６例，女７例，病程最长３１年，最短９年；平均发病年龄１３岁。皮损为米粒至黄豆大皮色丘疹，多见于双侧鼻唇沟，病理变化示由基底样细胞组成的肿瘤团块位于真皮内，呈实体型、花边样网主筛，有程度不同的毛分化改变，部分有收缩间隙，同时对该病的临床病理特征及临别诊断进行了简要的介绍。     

多发性家族性毛发上皮瘤1例及家系调查

先证者女,27岁。两侧鼻唇沟对称性分布丘疹15年。鼻翼部皮损组织病理示:真皮内有形状不规则的基底样瘤细胞呈栅栏状排列,散在分布角囊肿。诊断:多发性家族性毛发上皮瘤。家族中有5人罹患该病。     

毛发上皮瘤12例临床病理学观察

目的：探讨毛叟皮瘤与皮肤附属器结构的关系。方法：观察与分析12例毛发上皮瘤的临床表现及组织形态学结构。结果：多发性毛发上皮瘤10例（83．3％），20岁以下发病9例（75％），组织病理学改变主要是基底细胞样细胞增生，向毛囊及皮腺脂导管分化。结论：毛发上皮瘤是一种向毛囊分化为主的皮肤附属器错构瘤。     

表型差异的Brooke-spiegler综合征一家系基因突变检测研究

目的分析报道首例中国汉族B rooke-sp iegler综合征(BSS)家系中的圆柱瘤(CYLD)基因突变。方法收集家系资料并采集家系成员血样,从外周血中提取全基因组DNA,利用PCR反应扩增整个CYLD基因的编码序列,并对扩增产物进行直接测序分析。同时总结了PubM ed上2000年以来所报道的所有CYLD基因突变。结果迄今为止,共报道了33个CYLD基因的突变,笔者检测到一个过去曾报道与家族性圆柱瘤(FC)发生相关的无义突变2272C>T(R758X)。结论CYLD基因型与表型之间无一致关联性,报道的该突变可以导致中国汉族人BSS的发生。     

Cystic adenoid trichoepithelioma occurring in mother and daughter: Case report

Multiple familial trichoepithelioma is a rare autosomal predominantly on the face. They are benign skin tumours trichoepithelioma occurring in two members of the same family dominant skin disease that presents as many small tumours of hair follicle differentiation. We report multiple familial     

毛发上皮瘤与角化型基底细胞癌细胞形态及DNA含量定量分析

目的利用体视学技术对毛发上皮瘤及角化型基底细胞癌组织病理相似部分基底样细胞瘤块进行细胞形态及细胞核ＤＮＡ含量分析。方法每组各选５例进行细胞及细胞核形态及大小的测定,各选３０例进行细胞核ＤＮＡ含量定量分析。结果细胞形态及大小两组无差异（Ｐ＞０．０５）,细胞核形态及大小的各参量值两组有显著性差异（Ｐ＜０．０５）。毛发上皮瘤组３０例均为二倍体,角化型基底细胞癌组有异倍体１６例。结论两组肿瘤细胞的形态及大小相似,但角化型基底细胞癌的细胞核相对较大,且不规整,显示了恶性肿瘤的形态学特征。角化型基底细胞癌呈恶性生物学行为,而毛发上皮瘤则呈良性。