Malignant transformation of multiple dermal cylindromas

Abstract

Cylindromas are benign tumours arising as small, solitary, slow-growing nodules on the head and neck. Multiple cylindromas may form a 'turban tumour' in the autosomal dominant Brooke-Spiegler syndrome. We report two unusual cases of multiple cylindromas with transformation into cylindrocarcinomas. The first patient, a 63-year-old white woman, developed a cylindrocarcinoma on pre-existing multiple cylindromas on her right shoulder. Eight months after resection she developed a lymph node metastasis in the right axilla. The second patient, a 68-year-old white woman, presented with multiple cylindromas of the scalp. One of these transformed into a cylindrocarcinoma, infiltrating the dura mater, with local recurrence 2 years after incomplete resection and postoperative radiation.

An inactivating CYLD mutation promotes skin tumor progression by conferring enhanced proliferative, survival and angiogenic properties to epidermal cancer cells

“…In the case of melanoma, in which it has been described that reduced levels of CYLD promote the aggressiveness of the tumors, the reduction in CYLD expression also takes place after previous mutation/s have caused the tumor development (Massoumi et al, 2006). This could explain why malignization of cylindromas in patients of FC occurs with very low frequency (Durani et al, 2001;De Francesco et al, 2005); it could be due to the early age of outcome of the disease (from childhood to the second decade of the life) when previous mutations have not had time to occur in these patients.…”

“…Cylindromatosis patients carry heterozygous germ-line mutations in the carboxyl-terminal end of the CYLD gene, but the wild-type CYLD allele undergoes loss of heterozygosity, indicating that CYLD appears as a tumor-suppressor gene (Bignell et al, 2000). Cylindromas are usually benign, although occasionally they can malignize (Durani et al, 2001;De Francesco et al, 2005). Additional studies have associated Cyld downregulation with the development of other types of human cancer including tumors of colon, lung and kidney, as well as melanomas and cervical and hepatocellular carcinomas (Strobel et al, 2002;Hashimoto et al, 2004;Hirai et al, 2004;Costello et al, 2005;Hellerbrand et al, 2007;Keats et al, 2007;Zhong et al, 2007;Massoumi et al, 2009).…”

Malignant Cylindroma of the Scalp Arising in a Setting of Multiple Cylindromatosis: A Case Report

“…The number of cases still remains variable since not all cases are well documented. We present the demographics, family history, age of onset, metastasis, therapy, local recurrence, follow-up for a total of 34 cases including the present case (Table 1) [2,5,7,[15][16][17][18][19].…”

“…Malignant transformation of a solitary cylindroma is extremely rare and is somewhat more common, but unusual (33 cases reported) in patients with multiple lesions [2]. Characteristic clinical features indicating malignant change include rapid enlargement, increased tenderness, and change in color of a longstanding ulcerative lesion or bleeding [2,5,[7][8][9][10][11]. The malignant cylindroma is locally aggressive, often metastasizes, and requires careful long-term follow-up [2,4].…”

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“…2 Existem relatos de transformação maligna de cilindromas dérmicos, podendo ocorrer metástases em linfonodos, tireoide, fígado, pulmão e ossos. 3 O gene, ao qual se predispõe aos tricoepiteliomas múltiplos, foi mapeado no cromossoma 9p21. 4 Identificou-se, no cromossomo 16q 12-q 13, a susceptibilidade para cilindromas múltiplos familiar.…”