Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis

Abstract

Chordomas are tumors of the skull base and spine thought to arise from remnants of the notochord. Expression of cytokeratins and S100 is frequent and nuclear expression of brachyury, a transcription factor important for axial development, has been shown to be a sensitive and fairly specific diagnostic marker.

Keywords

• atypical teratoid/rhabdoid tumors
• brachyury expression
• ini1