Primary primitive neuroectodermal tumor of the spinal cord associated with neural tube defect

Abstract

Certain spinal-cord (SC) neoplasms, principally lipomas and dermoid tumors, have been diagnosed in association with characteristic neuroskeletal malformations thought to result from neural-tube defects (NTD). To our knowledge, no such association has been recognized for primary primitive neuroectodermal tumor of the SC (PNET-SC), an SC malignancy which has been reported in only 3 children and 5 adults. We describe here the occurrence and treatment results of PNET-SC in a boy who exhibited several neuroskeletal malformations suggestive of an underlying NTD. By undertaking a comparative analysis of the literature with respect to both the histology and the clinical presentation of this child's tumor, we document an occurrence of an uncommon malignancy, PNET-SC, and identify PNET-SC as another SC neoplasma which may be associated with NTD.