Pediatric Orbital Primitive Neuroectodermal Tumors

PURPOSE: To present the clinical, radiological, histopathological, immunohistochemical features and the follow-up of orbital primitive neuroectodermal tumors (PNETs) in pediatric patients along with a review of the literature. METHODS: A retrospective analysis of all diagnosed cases of orbital PNET was done. Patients' ophthalmic findings, imaging, immunohistochemistry, metastatic work-up, treatment, globe salvation, and survival were documented and a mini literature review of orbital PNET was performed. RESULTS: Four diagnosed cases of orbital PNET presented with proptosis and visual impairment were treated during the study period. The radiological imaging showed primary orbital involvement. There were three males and one female with a mean age of 63.75 months (range: 3 to 244 months). Histopathology of all studied patients showed round malignant cells with hyperchromatic nuclei, increased nuclear cytoplasmic ratio, and positive test results for CD99 and FLI-1. The studied patients underwent orbital surgery for excision of tumors followed by chemotherapy. One of the patients also had external radiation in addition to chemotherapy after a second recurrence. The follow-up period of these patients varied from 1 to 5 years. Only one child who had recurrence twice was followed up to 5 years, but was lost to follow-up after that. CONCLUSIONS: The authors believe that most orbital peripheral PNET tumors present as well-defined masses on both imaging and perioperatively and are easily removed surgically. The apparently disguised "benign profile" of orbital PNET may prove deceptive and the shorter duration of symptoms remains a strong reminder of the malignant nature of the lesion. [J Pediatr Ophthalmol Strabismus. 2018;55(2):93-99.].