TY - JOUR
T1 - Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms
T2 - Cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene
AU - Malzone, Maria Gabriella
AU - Campanile, Anna Cipolletta
AU - Losito, Nunzia Simona
AU - Longo, Francesco
AU - Perri, Francesco
AU - Caponigro, Francesco
AU - Schiavone, Concetta
AU - Ionna, Franco
AU - Maiello, Francesco
AU - Martinuzzi, Claudia
AU - Nasti, Sabina
AU - Botti, Gerardo
AU - Fulciniti, Franco
PY - 2015/8/1
Y1 - 2015/8/1
N2 - 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.
AB - 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.
KW - basal cell adenoma
KW - Brooke-Spiegler syndrome
KW - CYLD gene
KW - cylindroma
KW - fine-needle cytology
KW - parotid gland
UR - http://www.scopus.com/inward/record.url?scp=84988287748&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84988287748&partnerID=8YFLogxK
U2 - 10.1002/dc.23275
DO - 10.1002/dc.23275
M3 - Article
C2 - 25995191
AN - SCOPUS:84988287748
VL - 43
SP - 654
EP - 658
JO - Diagnostic Cytopathology
JF - Diagnostic Cytopathology
SN - 8755-1039
IS - 8
ER -