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

Diagn Cytopathol. 2015 Aug;43(8):654-8. doi: 10.1002/dc.23275. Epub 2015 May 21.

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.

Keywords: Brooke-Spiegler syndrome; CYLD gene; basal cell adenoma; cylindroma; fine-needle cytology; parotid gland.

Publication types

  • Case Reports

MeSH terms

  • Adenoma / diagnosis*
  • Adenoma / genetics
  • Adenoma / pathology
  • Aged
  • Base Sequence
  • Biopsy, Fine-Needle
  • Deubiquitinating Enzyme CYLD
  • Female
  • Gene Expression
  • Germ-Line Mutation
  • Histocytochemistry
  • Humans
  • Molecular Sequence Data
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology
  • Parotid Gland / metabolism
  • Parotid Gland / pathology
  • Parotid Neoplasms / diagnosis*
  • Parotid Neoplasms / genetics
  • Parotid Neoplasms / pathology
  • Skin / metabolism
  • Skin / pathology
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Tumor Suppressor Proteins / genetics*

Substances

  • Tumor Suppressor Proteins
  • CYLD protein, human
  • Deubiquitinating Enzyme CYLD

Supplementary concepts

  • Familial cylindromatosis