Cerebellar pleomorphic xanthoastrocytoma in the setting of neurofibromatosis type-I: Does it portend a different prognosis? A case report and systematic review.

BACKGROUND: Pleomorphic xanthoastrocytoma (PXA) is a rare brain tumor occurring supra- and infra-tentorially in both young adults and children. PXA is a benign tumor with a favorable prognosis. It is not traditionally considered as a neurofibromatosis type 1 (NF-1)-associated lesion, and its prognosis remains largely unknown, on the contrary to non-NF-1 PXA tumors.

OBJECTIVE: Herein, we present a rare case of cerebellar PXA in a patient with NF-1 and performed systematic review of NF-1-associated PXA.

METHOD: We present a case of NF-1-associated PXA arising in the cerebellar region. We also reviewed the literature in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines to identify published cases of cerebellar vs. non-cerebellar NF-1-associated PXA and NF1 vs. non-NF1 PXAs, highlighting their management paradigm, prognosis, and outcomes.

RESULT: Our systematic review yielded only four previously reported cases of NF-1-associated PXAs in the cerebellar region. Our review suggests that infratentorial PXAs have a higher recurrence and lower survival rates than non-cerebellar NF-1-associated PXAs and non-NF1 PXAs in general.

CONCLUSION: Early and precise diagnosis is important for these lesions with the aid of imaging features, histology, immunohistochemistry, and genetic markers. Surgical resection with goal of GTR remains the mainstay management strategy for PXA, with adjuvant therapy usually reserved for anaplastic or malignant lesions. The identification of BRAF-V600E mutation and role of BRAF inhibitors hold promise as a diagnostic tool and treatment modality, respectively, for PXAs, and their relationship to NF-1 is worth further exploration.