Carcinosarcoma arising in a patient with multiple cylindromas
Carcinosarcoma arising in a patient with multiple cylindromas
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DOI：
10.1097/01.dad.0000141548.69423.c7
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发表时间：
2005-02-01
影响因子：
1.1
通讯作者：
Patrone, P
中科院分区：
文献类型：
--
作者：
De Francesco, V;Frattasio, A;Patrone, P
家族性圆柱瘤病（布鲁克-斯皮格勒综合征）是一种罕见的常染色体显性遗传病，其特征是附件肿瘤的发展，主要是圆柱瘤，但也有毛上皮瘤和螺旋腺瘤。可能会发生恶性肿瘤。通常具有圆柱形癌的特征。作者描述了一位患有布鲁克-斯皮格勒综合征的 75 岁女性的病例，她的头皮、面部和躯干出现多个结节。 1997年，她接受了整个前额和头皮的手术切除并植皮。组织学检查发现多发性圆柱瘤，其中一些具有螺旋腺瘤区域，另一种则具有广泛的腺瘤成分；一些毛发上皮瘤也很明显。 2002年，躯干的一个结节突然变大，变得疼痛。切除病变，组织学和免疫组织化学评估显示恶性皮肤双相肿瘤延伸至皮下组织，由具有所有附件癌特征的主要部分和少量非典型梭形细胞组成。双相恶性皮肤肿瘤发病率高，且仅描述了有限的数量，没有一个与布鲁克-斯皮格勒综合征相关。作者讨论了该综合征中肿瘤所源自的毛囊皮脂腺-大汗腺单位的形态发生，以及间充质细胞在决定该过程中的关键作用。由于布鲁克-斯皮格勒综合征的特征是 CYLD 肿瘤抑制基因的种系突变，因此这种情况下的双相肿瘤可能代表真正的癌肉瘤。
Familial cylindromatosis (Brooke-Spiegler syndrome) is a rare autosomal dominant inherited disease characterized by the development of adnexal tumors, mostly cylindromas, but also trichoepitheliomas and spiradenomas. Malignant tumors may occur. usually with the features of a cylindrocarcinoma. The authors describe the case of a 75-year-old woman with the Brooke-Spiegler syndrome who presented with multiple nodules of the scalp, face, and trunk. In 1997 she underwent surgical excision of the entire forehead and scalp with skin grafting. Histologic examination revealed multiple cylindromas, some with areas of spiradenoma and one with all extensive adenomatous component; some trichoepitheliomas were also evident. In 2002, a nodule of the trunk Suddenly increased in size and became painful. The lesion was excised and histologic and immunohistochemical evaluation revealed a malignant cutaneous biphasic tumor extending into the subcutis, consisting of a major portion with the features of all adnexal carcinoma and of a minor one of atypical spindle cells. Biphasic malignant skin tumors are rate and only a limited number have been described, none in association with the Brooke-Spiegler syndrome. The authors discuss the morphogenesis of the folliculosebaceous-apocrine unit from which the tumors in this syndrome derive, and the pivotal role of mesenchymal cells in determining the process. Since the Brooke-Spiegler syndrome is characterized by a germline mutation in the CYLD oncosuppressor gene, a biphasic tumor in this setting may represent a true carcinosarcoma.