Poorly differentiated chordoma: recognising this complex and rare aggressive tumour with characteristic immunohistochemical profile.

Abstract

Introduction: Poorly differentiated chordoma (PDC) is an uncommon subtype of chordoma, distinct in its occurrence in paediatric age group, location, variable epithelioid/rhabdoid/spindled histomorphology and the lack of physaliphorous cells (classical of chordoma) and immunohistochemistry (INI-1 loss, brachyury positive). We describe two cases of PDC.

Case reports: A 3-year-old male and 4-year-old female child presented with neck stiffness and infiltrating tumour involving the skull base and upper cervical vertebral segments. Histopathology showed a tumour with sheets of cells having epithelioid to rhabdoid morphology and absence of physaliphorous cells. The tumour cells were positive for pan-cytokeratin, EMA, CD99 and vimentin and showed loss of INI-1 suggesting differentials of epithelioid sarcoma and atypical teratoid/rhabdoid tumour. On careful review of the clinical, radiological and pathological features, the additional immunohistochemistry for brachyury was performed, and its positivity clinched the diagnosis of PDC. Both the patients succumbed within a short span post-surgery.

Conclusion: The present case study helps in creating an awareness and attempts to expand our knowledge in relation to the spectrum of chordoma (clinico-histological) and its immunohistochemical profile.