PLEOMORPHIC XANTHOASTROCYTOMA- A RARE ENTITY

Abstract

INTRODUCTION: Pleomorphic xanthoastrocytoma (PXA) is an exceedingly rare
astrocytic tumor, accounting for less than 1% of these neoplasms and under 0.3% of
primary CNS tumors. It primarily affects children and adolescents, most commonly
in the temporal lobe, where it often presents as epilepsy. PXAs are slow-growing and
typically lack significant peritumoral edema. Histologically, PXAs are marked by
pleomorphic tumor cells including spindle cells, polygonal cells, multinucleated
giant cells and lipid-laden cells, with nuclear inclusions and eosinophilic granular
bodies.
CASE REPORT: A 9-year-old female presented with a one-month history of
persistent headaches and vomiting, and two episodes of convulsions. MRI revealed a
4.2 x 3.9 x 6 cm heterogeneously enhancing intra-axial mass in the right frontotemporo-parietal region, with mild to moderate vasogenic edema and a contralateral
midline shift. The tumor was resected via right fronto-parietal craniotomy and
histopathology confirmed pleomorphic xanthoastrocytoma. Immunohistochemistry
showed IDH-1 negativity, while FNAC suggested high-grade glioma. Gene mutation
showed BRAF (V600E) positivity.
DISCUSSION: Pleomorphic xanthoastrocytoma is a rare, well-circumscribed
astrocytoma that commonly presents as seizures. Although typically cerebral, PXAs
have also been reported in less common locations like the cerebellum, spinal cord
and retina.
CONCLUSION: PXA has a favourable prognosis, with a five-year survival rate of
approximately 70%, though outcomes vary based on tumor grade, molecular profile,
age and treatment response.