title: Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene.
abstract: Multiple dermal cylindromas and membranous basal cell adenoma of parotid gland in a 67-year-old woman with Brooke-Spiegler syndrome (BSS) were examined by fine-needle cytology. Histology, immunochemistry, and CYLD germline mutation testing were also performed. Cytomorphology and immunochemistry of the two lesions showed basaloid neoplasms, remarkably similar, composed by proliferating epithelial cells of basal type accompanied by a smaller proportion of myoepithelial cells. CYLD gene showed a novel germline splice acceptor site mutation (c.2042-1G>C) with skipping of the entire exon 15. The occurrence of analogous tumors, dermal cylindromas, and membranous basal cell adenoma of the parotid gland, in the same patient may result from the action of a single gene on ontogenetically similar stem cells. Therefore, patients with BSS should be offered a genetic counselling for an early and correct diagnosis.
authors.affiliation: Istituto Nazionale Tumori "Fondazione G. Pascale,", S.S.D. Di Citopatologia E S.C Di Anatomia Patologica, Napoli, Italy.
authors.forename: Maria Gabriella
authors.initials: MG
authors.lastname: Malzone
authors.affiliation: Istituto Nazionale Tumori "Fondazione G. Pascale,", S.S.D. Di Citopatologia E S.C Di Anatomia Patologica, Napoli, Italy.
authors.forename: Anna Cipolletta
authors.initials: AC
authors.lastname: Campanile
authors.affiliation: Istituto Nazionale Tumori "Fondazione G. Pascale,", S.S.D. Di Citopatologia E S.C Di Anatomia Patologica, Napoli, Italy.
authors.forename: Nunzia Simona
authors.initials: NS
authors.lastname: Losito
authors.affiliation: S.C Di Chirurgia Maxillo-Facciale ORL, Istituto Nazionale Tumori "Fondazione G. Pascale,", Napoli, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Longo
authors.affiliation: Medical Oncology Unit, Presidio Ospedaliero Centrale "SS Annunziata,", Taranto, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Perri
authors.affiliation: S.C. Di Oncologia Medica Testa Collo E Sarcomi, Istituto Nazionale Tumori "Fondazione G. Pascale,", Napoli, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Caponigro
authors.affiliation: S.C. Di Radioterapia, Istituto Nazionale Tumori "Fondazione G. Pascale,", Napoli, Italy.
authors.forename: Concetta
authors.initials: C
authors.lastname: Schiavone
authors.affiliation: S.C Di Chirurgia Maxillo-Facciale ORL, Istituto Nazionale Tumori "Fondazione G. Pascale,", Napoli, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Ionna
authors.affiliation: Servizio Di Anatomia, Istologia Patologica E Citopatologia, Presidio Ospedaliero Dei Pellegrini, Napoli, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Maiello
authors.affiliation: Dipartimento Di Medicina Interna E Specialità Mediche, Università Di Genova, Genova, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Martinuzzi
authors.affiliation: Dipartimento Di Medicina Interna E Specialità Mediche, Università Di Genova, Genova, Italy.
authors.forename: Sabina
authors.initials: S
authors.lastname: Nasti
authors.affiliation: Istituto Nazionale Tumori "Fondazione G. Pascale,", S.S.D. Di Citopatologia E S.C Di Anatomia Patologica, Napoli, Italy.
authors.forename: Gerardo
authors.initials: G
authors.lastname: Botti
authors.affiliation: Istituto Nazionale Tumori "Fondazione G. Pascale,", S.S.D. Di Citopatologia E S.C Di Anatomia Patologica, Napoli, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Fulciniti
mesh_terms: D000236:Adenoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000368:Aged; D001483:Base Sequence; D044963:Biopsy, Fine-Needle; D000074749:Deubiquitinating Enzyme CYLD; D005260:Female; D015870:Gene Expression; D018095:Germ-Line Mutation; D006651:Histocytochemistry; D006801:Humans; D008969:Molecular Sequence Data; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010306:Parotid Gland / Q000378:metabolism / Q000473:pathology; D010307:Parotid Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012867:Skin / Q000378:metabolism / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD
keywords: Brooke-Spiegler syndrome; CYLD gene; basal cell adenoma; cylindroma; fine-needle cytology; parotid gland