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

Maria Gabriella Malzone, Anna Cipolletta Campanile, Nunzia Simona Losito, Francesco Longo, Francesco Perri, Francesco Caponigro, Concetta Schiavone, Franco Ionna, Francesco Maiello, Claudia Martinuzzi, Sabina Nasti, Gerardo Botti, Franco Fulciniti

Research output: Contribution to journalArticle


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. Diagn. Cytopathol. 2015;43:654-658.

Original languageEnglish
Pages (from-to)654-658
Number of pages5
JournalDiagnostic Cytopathology
Issue number8
Publication statusPublished - Aug 1 2015



  • basal cell adenoma
  • Brooke-Spiegler syndrome
  • CYLD gene
  • cylindroma
  • fine-needle cytology
  • parotid gland

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

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