Clinicocytopathological spectrum, including uncommon forms, of nine cases of chordomas with immunohistochemical results, including brachyury immunostaining: A single institutional experience

Cytopathology. 2019 Mar;30(2):229-235. doi: 10.1111/cyt.12631. Epub 2018 Nov 8.


Objectives: To present clinical and cytopathological features of nine cases of chordomas, diagnosed over 9 years and confirmed by brachyury (T) immunostaining.

Methods: Conventional cytological smears, stained with Papanicolaou and May-Grünwald Giemsa, along with corresponding histopathological (n = 8) and immunostained sections (n = 8) were reviewed. Immunohistochemical staining was performed on tissue sections by polymer detection technique.

Results: Nine tumours occurred in seven males and two females, with age ranging from 36 to 72 years (average = 58.7), in the sacrum (seven) and spine (two). On fine needle aspiration cytology, five cases were either diagnosed with or diagnosed with a suggestion of a chordoma, while three cases were diagnosed with chordoma as a differential diagnosis. On review, smears were moderately cellular, comprising myxoid stroma (9/9), epithelioid cells (9/9), physaliphorous cells (8/9), including binucleation (7/9), prominent nucleolisation (2/9), pleomorphic cells (2/9) and intranuclear inclusions (3/9). Immunohistochemically, tumour cells expressed cytokeratin (4/4), pan cytokeratin (4/4), epithelial membrane antigen (8/8), S100 protein (6/8) and brachyury (8/8). Five patients underwent surgical excision, including two who underwent adjuvant radiotherapy (RT) and four patients who underwent RT. During follow-up (n = 8), a single patient developed recurrence and another presented with metastatic lesions. Finally, five patients were alive with disease (7-53 months); a single patient was free of disease (4 months), and two patients died of disease; the latter cases displayed pleomorphic cells and intranuclear inclusions.

Conclusions: Chordomas can be primarily diagnosed by fine needle aspiration cytology in a typical clinicoradiological setting with a combination of key cytomorphological features. Pleomorphic cells and intranuclear inclusions are associated with a relatively aggressive subtype. An exact diagnosis has treatment implications and requires confirmation by brachyury immunostaining.

Keywords: brachyury; fine needle aspiration cytology of bone and soft tissue tumours; fine needle aspiration cytology of chordoma.

MeSH terms

  • Adult
  • Aged
  • Biopsy, Fine-Needle
  • Chordoma / diagnosis*
  • Chordoma / genetics
  • Chordoma / pathology
  • Cytodiagnosis*
  • Female
  • Fetal Proteins / genetics
  • Fetal Proteins / isolation & purification*
  • Gene Expression Regulation, Neoplastic / genetics
  • Humans
  • Male
  • Middle Aged
  • Mucin-1 / genetics
  • T-Box Domain Proteins / genetics
  • T-Box Domain Proteins / isolation & purification*


  • Fetal Proteins
  • MUC1 protein, human
  • Mucin-1
  • T-Box Domain Proteins
  • Brachyury protein