Cytopathologic characteristics of SMARCB1 (INI-1) deficient sinonasal carcinoma: A potential diagnostic pitfall

Diagn Cytopathol. 2016 Aug;44(8):700-3. doi: 10.1002/dc.23503. Epub 2016 May 14.

Abstract

Tumors of the head and neck are extremely diverse and a subset are poorly differentiated and difficult to classify. Recently, a new entity has been described with rhabdoid and/or plasmacytoid cytologic features and a characteristic genetic signature-inactivation of the SMARCB1 (INI-1) tumor suppressor gene. To date, only 16 cases of SMARCB1 (INI-1) deficient sinonasal carcinoma have been described, and there are currently no reports of the cytopathologic features by fine needle aspiration (FNA) cytology. A case of a 77-year-old man who presented with a posterior ethmoid sinus lesion with invasion into the skull base and bone was reported. FNA cytology of a right retropharyngeal lymph node revealed relatively monomorphic, loosely cohesive clusters of plasmacytoid cells with occasional nucleoli, rare intranuclear cytoplasmic inclusions, and mitotic figures in a background of necrosis and absence of overt squamous or glandular differentiation. A diagnosis of metastatic myoepithelial carcinoma was made; however, retrospectively, the surgical excision showed loss of the SMARCB1 (INI-1) tumor suppressor gene by immunohistochemistry. In summary, the cytomorphologic features of SMARCB1 (INI-1) deficient sinonasal carcinoma are relatively nonspecific and overlap with other regional tumors, including myoepithelial neoplasms. As a result, this entity should be considered in the differential diagnosis for a plasmacytoid tumor arising in the sinonasal tract by FNA cytology. Diagn. Cytopathol. 2016;44:700-703. © 2016 Wiley Periodicals, Inc.

Keywords: SMARCB1 (INI1); cytopathology; fine needle aspiration; sinonasal carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Biopsy, Fine-Needle
  • Carcinoma / genetics
  • Carcinoma / pathology*
  • Dendritic Cells / pathology
  • Diagnosis, Differential
  • Humans
  • Male
  • Maxillary Sinus Neoplasms / genetics
  • Maxillary Sinus Neoplasms / pathology*
  • Nose Neoplasms / genetics
  • Nose Neoplasms / pathology*
  • SMARCB1 Protein / deficiency*

Substances

  • SMARCB1 Protein
  • SMARCB1 protein, human