Maxillar localization of a congenital peripheral primitive neuroectodermal tumor:

Summary 

Peripheral primitive neuroectodermal tumor is very rare in children and congenital forms are exceptional. This tumor belongs to the Ewing's sarcoma (ES) family and the difficulty of diagnosis lies in the confusion with rhabdomyosarcoma, neuroblastoma, ES and lymphoma. Diagnosis is only performed by immunohistochemistry and RNA analysis. Congenital peripheral primitive neuroectodermal tumor seems to be more aggressive and refractory to treatment than non-congenital forms. In literature, most of the patients die within 6 months of diagnosis despite therapy. We report the first case of congenital peripheral primitive neuroectodermal tumor localized in the left maxillary bone of a full-term female infant.

Keywords: Peripheral primitive neuroectodermal tumor, Neural crest, Congenital, Ewing's sarcoma, EWS/FLI-1 fusion gene