title: A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome.
abstract: The authors report a 64-year-old female with Brooke-Spiegler syndrome who presented with multiple cutaneous nodules and tumors mostly involving the scalp. Histopathological examination of one of the lesions located in a periauricular area revealed a typical cylindroma. In some neoplastic nodules ductal differentiation and occasional bilayered glands composed of the dark abluminal basal/myoepithelial cells and luminal mucinous cells might be recognized. Apocrine secretion was focally noted. Molecular biologic study of the CYLD gene performed from the peripheral blood identified a novel splice site c.2041+1 G>T mutation. This new germline mutation in the CYLD gene of a Slovak patient with Brooke-Spiegler syndrome extends the catalogue of known CYLD germline mutations in this condition.
authors: Department of Pathology, Charles University in Progue, Medical Faculty in Pilsen, Czech Republic. kacerovska@medima.cz
authors: Denisa
authors: D
authors: Kacerovská
authors: Zoltán
authors: Z
authors: Szép
authors: Lucka
authors: L
authors: Kolláriková
authors: Tomáš
authors: T
authors: Vaneček
authors: Michal
authors: M
authors: Michal
authors: Dušan
authors: D
authors: Daniš
authors: Dmitry
authors: D
authors: Kazakov
mesh_terms: D000074749:Deubiquitinating Enzyme CYLD; D005260:Female; D018095:Germ-Line Mutation; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000473:pathology; D012535:Scalp; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD