Peripheral primitive neuroectodermal tumour with ganglioneuroma-like areas arising in the cauda equina

Abstract

 Peripheral primitive neuroectodermal tumour (pPNET or peripheral neuroepithelioma) is one of the malignant small round cell tumours of peripheral nerves, soft tissues and bones, but rarely originates in the spinal canal. We report an example of pPNET arising in the cauda equina of a 14-year-old Japanese boy. At surgery, a well-demarcated tumour measuring 2×4 cm in diameter and involving one of the nerve roots of the cauda equina was located within the intradural space with no evidence of extradural extension. Microscopically the tumour was made up of sheets of closely packed small round cells, associated with ganglioneuroma-like islands. Immunohistochemically, the small round tumour cells were intensely positive for neuron-specific enolase (NSE), an MIC2 gene product (O13) and β2-microglobulin, whereas the foci with ganglion cell-like cells reacted positively to NSE, synaptophysin and β2-microglobulin but were negative for O13. A chimeric transcript of the EWS/FLI-1 fusion gene detected by a nested reverse transcriptase–polymerase chain reaction using formalin-fixed paraffin-embedded tissue justified the diagnosis of pPNET. Only 6 cases of PNET in the cauda equina have been described in the literature, and this is the first case of a pPNET with ganglioneuroma-like areas. This finding suggests that the primitive tumour cells of pPNET may respond to unknown inductive effects and express a ganglion cell-like morphology.