title: An unusual case of congenital primitive neuroectodermal tumor with ocular metastasis.
abstract: Primitive neuroectodermal tumor (PNET) is most common in the second decade of life. Congenital PNET is very rare. Ocular metastasis of PNET is likewise exceedingly rare; with only 5 previously published cases. We report an unusual congenital PNET of the face, which metastasized to subcutis, eyes, and brain. The primary tumor responded to chemotherapy (vincristine/doxorubicin/cyclophosphamide) with metachronous progression of ocular lesions. A therapeutic trial of intraocular bevacizumab showed no efficacy on intraocular lesions. Eventually the patient developed cerebral metastasis, and second line therapy with topotecan/cyclophosphamide was initiated. The tumor progressed and the patient died after acute herniation.
authors: Pontificia Universidad Católica, Ophtalmology, Santiago, Chile. Tobias.Neff@tch.harvard.edu
authors: Cristian
authors: C
authors: Salgado
authors: Tobias
authors: T
authors: Neff
authors: Lindsay
authors: L
authors: Frazier
authors: Sara O
authors: SO
authors: Vargas
authors: Deborah
authors: D
authors: Vanderveen
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000008:administration & dosage; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D000068258:Bevacizumab; D003520:Cyclophosphamide / Q000008:administration & dosage; D004317:Doxorubicin / Q000008:administration & dosage; D005134:Eye Neoplasms / Q000556:secondary* / Q000628:therapy; D005145:Face / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018242:Neuroectodermal Tumors, Primitive / Q000151:congenital* / Q000473:pathology* / Q000628:therapy; D012983:Soft Tissue Neoplasms / Q000151:congenital* / Q000473:pathology* / Q000628:therapy; D019772:Topotecan / Q000008:administration & dosage; D014750:Vincristine / Q000008:administration & dosage
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D000068258:Bevacizumab; D014750:Vincristine; D019772:Topotecan; D004317:Doxorubicin; D003520:Cyclophosphamide