Abstract：
:Brooke-Spiegler syndrome represents an autosomal dominant disease characterized by the occurrence of multiple cylindromas, trichoepitheliomas and (sporadically) spiroadenomas. Patients with Brooke-Spiegler syndrome are also at risk of developing tumors of the major and minor salivary glands. Patients with Brooke-Spiegler syndrome have various mutations in the CYLD gene, a tumor-suppressor gene located on chromosome 16q. To date, 68 unique CYLD mutations have been identified. We describe two families with Brooke-Spiegler syndrome, one with familial cylindromatosis and one with multiple familial trichoepithelioma, which showed wide inter-family phenotypic variability. Analysis of germline mutations of the CYLD and PTCH genes was performed using peripheral blood. In addition, formalin-fixed paraffin-embedded tumor samples were analyzed for PTCH somatic mutations and cylindroma cell cultures were obtained directly from patients for further growth and analysis. Clinically, the major features of Brooke-Spiegler syndrome include the presence of heterogeneous skin tumors and wide inter- and intra-familial phenotypic variability. Histopathologically, both cylindromas and trichoepitheliomas were found in affected individuals. Mutations or loss of heterozygosity was not found in CYLD and PTCH genes. In CYLD and PTCH mutation-negative patients, other genes may be affected and further studies are needed to clarify whether these patients may be affected by de novo germline mutations.
journal_name
J Cutan Patholjournal_title
Journal of cutaneous pathologyauthors
Ponti G,Nasti S,Losi L,Pastorino L,Pollio A,Benassi L,Giudice S,Bertazzoni G,Veratti E,Azzoni P,Bianchi Scarrà G,Seidenari Sdoi
10.1111/j.1600-0560.2011.01813.xsubject
Has Abstractpub_date
2012-03-01 00:00:00pages
366-71issue
3eissn
0303-6987issn
1600-0560journal_volume
39pub_type
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journal_title：Journal of cutaneous pathology
pub_type： 杂志文章
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