Cerebral pleomorphic xanthoastrocytoma associated with NF1: an updated review with a rare atypical case from Africa

Abstract

The occurrence of cerebral pleomorphic xanthoastrocytoma (PXA) in individuals with neurofibromatosis type 1 (NF1) is very rare. We present a 10-year-old Nigerian boy with NF1 who was found to harbor a thalamic-lateral ventricular solid mass lesion whose histologic and immunohistochemical findings were in keeping with PXA. We also carried out an updated review of the PXA-NF1 literature and found only eight previous reports of this clinical disease association. These reports have been limited to only certain regions of the world, with none yet reported from Africa, South America, Australia, and Eastern Europe. As far as we know, this might be the first such report from Africa. The case we present, in addition, demonstrated some other unique clinical, radiological, and histopathologic characteristics which have been highlighted in this review.

Malignant conversion to glioblastoma in neurofibromatosis type I-associated pleomorphic xanthoastrocytoma: Unknown predictors of favorable outcome

“…It is an autosomal dominant disorder with complete penetrance. [ 1 ] Although common associated intracranial tumors are pilocytic astrocytomas of the optic nerve, occasionally PXA has been reported.…”

“…PXA, first described in 1979, is a benign tumor of glial origin that commonly affects children and young adults. [ 1 3 ] Although usually seen in superficial temporal and parietal lobes, other sites as cerebellum, thalamus, sella, and spinal cord have been rarely reported. [ 2 4 ] It presents as a cortical or deep hemispheric lesion that is solid or cystic with a mural nodule and has dural attachment.…”

“…Neurofibromatosis type I (NF-1) is a genetic disorder with complete penetrance that occurs with frequency 1 in 2000 to 1 in 8000. [ 1 ] Associated intracranial gliomas are common, with optic nerve astrocytoma being most common. Pleomorphic xanthoastrocytoma (PXA), first introduced in 1979, has been rarely reported in NF-1.…”

Simultaneous Presentation of Cerebellopontine Angle Pleomorphic Xanthoastrocytoma and Malignant Melanoma in a Known Case of Neurofibromatosis 1; Probable Role of BRAF Gene: A Case Report and Review of Literature

“…Our patient had multiple café au lait spots and left optic nerve glioma. Co-occurrence of NF1 with PXA is very rare, with only less than ten cases reported in literature (9). Due to superficial leptomeningeal involvement, PXA is seen as a solid firm tumor usually with cystic component.…”

Pleomorphic Xanthoastrocytoma of the Pineal Region in a Pediatric Patient With Neurofibromatosis Type 1

“…NF1 is rarely associated with PXA, with a total of 16 cases reported since 1993 (Table 1). [6][7][8][9][10][11][12][13][14][15][16][17][18][19] These PXAs most often involved the supratentorial cerebral cortex; however, in 3 cases, they were in the cerebellum, and in 2 cases, the PXAs were in the basal ganglia and ventricular-thalamic area. The natural history and prognosis of PXAs in atypical locations and in association with NF1 are unknown.…”