1. 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
- Author
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B D Maria Gabriella Malzone, Gerardo Botti, Franco Fulciniti, Franco Ionna, Francesco Caponigro, B D Claudia Martinuzzi, Francesco Maiello, Francesco Longo, Concetta Schiavone, Francesco Perri, B D Anna Cipolletta Campanile, B D Sabina Nasti, and Nunzia Simona Losito
- Subjects
Pathology ,medicine.medical_specialty ,Histology ,business.industry ,Myoepithelial cell ,General Medicine ,medicine.disease ,Basal cell adenoma ,Germline ,Pathology and Forensic Medicine ,Parotid gland ,Basal (phylogenetics) ,Germline mutation ,medicine.anatomical_structure ,Cylindroma ,Immunochemistry ,Medicine ,business - 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.
- Published
- 2015
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