title: A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology.
abstract: We present a case of Brooke-Spiegler syndrome with a germline deep intronic mutation in the CYLD gene leading to intronic exonization. Additionally, diverse somatic mutations were identified, namely loss of heterozygosity, a recurrent nonsense mutation, and a sequence mutation causing exon skipping. These somatic aberrations were identified in 4 different cylindromas that had been removed from the patient. Additionally, we microscopically studied a spiradenocylindroma that showed unusual histology, including foci of follicular differentiation. A deep intronic mutation resulting in exonization and a somatic sequence mutations causing exon skipping are hitherto unreported genetic mechanisms involving the CYLD gene in patients with Brooke-Spiegler syndrome.
authors: Sikl's Department of Pathology, Charles University Medical Faculty Hospital, Pilsen, Czech Republic. kazakov@medima.cz
authors: Dmitry V
authors: DV
authors: Kazakov
authors: Sybilla
authors: S
authors: Thoma-Uszynski
authors: Tomas
authors: T
authors: Vanecek
authors: Denisa
authors: D
authors: Kacerovska
authors: Petr
authors: P
authors: Grossmann
authors: Michal
authors: M
authors: Michal
mesh_terms: D003528:Carcinoma, Adenoid Cystic / Q000235:genetics* / Q000473:pathology*; D004252:DNA Mutational Analysis; D000074749:Deubiquitinating Enzyme CYLD; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D019656:Loss of Heterozygosity; D008875:Middle Aged; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD