From fine-needle aspiration cytology to fluorescent in-situ hybridization in an unusual case of pharyngeal synovial sarcoma

Diagn Cytopathol. 2019 Oct;47(10):1067-1071. doi: 10.1002/dc.24274. Epub 2019 Jul 10.

Abstract

Synovial sarcoma arising in the pharynx is a rare entity, with very few cases described in literature, mainly as surgical-oriented case reports. We report the case of a healthy 20-year old man who presented with a painless right neck mass, clinically suspicious for a thyroid nodule. Ultrasound scan and fine-needle aspiration cytology failed to provide a definitive result, although suggesting a mesenchymal proliferation, in accordance with magnetic resonance imaging findings. Therefore, the lesion was removed with a minimally invasive surgical intervention. Definitive histologic and immunohistochemical examination of the surgical specimen revealed a biphasic synovial sarcoma, further validated by the detection of SS18 gene rearrangement on fluorescent in-situ hybridization examination. Although rarely, synovial sarcoma may arise in the pharynx. Radiological, cytological, histological and molecular findings are needed along each step of the diagnostic process.

Keywords: fine-needle aspiration; fluorescent in-situ hybridization; pharynx; synovial sarcoma.

Publication types

  • Case Reports

MeSH terms

  • Biopsy, Fine-Needle
  • Genetic Testing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Pharyngeal Neoplasms / genetics
  • Pharyngeal Neoplasms / pathology*
  • Proto-Oncogene Proteins / genetics*
  • Repressor Proteins / genetics*
  • Sarcoma, Synovial / genetics
  • Sarcoma, Synovial / pathology*
  • Young Adult

Substances

  • Proto-Oncogene Proteins
  • Repressor Proteins
  • SS18 protein, human