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. Issue 8 (21st May 2015)

• Record Type: Journal Article
• Authors: Malzone, Maria Gabriella; Campanile, Anna Cipolletta; Losito, Nunzia Simona; Longo, Francesco; Perri, Francesco; Caponigro, Francesco; Schiavone, Concetta; Ionna, Franco; Maiello, Francesco; Martinuzzi, Claudia; Nasti, Sabina; Botti, Gerardo; Fulciniti, Franco
• Is Part Of: Diagnostic cytopathology. Volume 43:Issue 8(2015:Aug.)
• Page Start: 654
• Page End: 658
• Publication Date: 2015-05-21
• Subjects: Cytodiagnosis -- Periodicals; Pathology, Cellular -- Periodicals; Cytology -- Periodicals; 616.07582
• DOI: 10.1002/dc.23275
• Languages: English
• ISSNs: 8755-1039

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>CYLD</italic> 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. <italic>CYLD</italic> gene showed a novel germline splice acceptor site mutation (c.2042‐1G&gt;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. © 2015 Wiley Periodicals, Inc.</p> </abstract>