Lumbar region intra-spinal primitive neuroectodermal tumour (PNET) combined with neurofibromatosis type 1

RESUMEN

Primitive neuroectodermal tumours (PNET) are aggressive neoplasias that are diagnosed, usually, in infancy. Their appearance in adulthood is rare and, exceptionally, in association with neurofibromatosis type I (NF-1). We present a case of a 37 year-old man with NF-1 combined with PNET in the intra-arachidial lumbar region. Diagnosis was by Nuclear Magnetic Resonance (NMR) and biopsy of soft tissue mass which showed a PNET with undifferentiated round cells and immunohistochemically positive for CD99, neurone-specific enolase, synaptophysin and LEU-7. Surgery was performed with spine decompression and resection of 80% of the tumour, with symptoms improvement. Radiotherapy was administered on the lumbosacral column, but only up to 30 Gy because of severe actinic enteritis and pan-cytopenia grade III. Six months later, the patient was hospitalized with deterioration in his overall clinical status with multi-organ involvement. The patient died and an autopsy was performed. The initial treatment of the PNET is surgery and, if possible, the radical extirpation of the tumour. Administration of radiotherapy and chemotherapy appears to increase survival. We comment on the clinical, histological, cytological and immunohistochemical aspects together with a review of the literature. To the best of our knowledge this is the first documentation of such a case