ID #881 Neuroepithelial Tumors with PATZ1 Rearrangement in Pediatrics: A Systematic Review of Diagnosis, Management, and Outcomes
Vibhuti Agarwal, Kasey Jackson, Mohamed AbdelbakiAbstract
Introduction
Neuroepithelial tumors with PATZ1 gene rearrangement (NETPATZ1) are a recently described, extremely rare pediatric tumor entity characterized by a distinct DNA-methylation profile and recurrent PATZ1 fusions with EWSR1 or MN1. These tumors are not yet included in the 2021 WHO classification of CNS tumors, and their optimal management and prognosis remain uncertain, although available series suggest an intermediate clinical course.
Methods
A systematic literature review was performed using PubMed and the Cochrane Library to identify English-language pediatric case series and case-level reports of NETPATZ1. Articles were reviewed for patient demographics, tumor location, histopathologic diagnosis, molecular findings, treatment approaches, recurrence patterns, and survival outcomes.
Results
Thirty-one pediatric patients were identified, with a median age of 8.8 years (range 0–18). Tumors were predominantly supratentorial (28/31, 90%), with 3 cases arising in the posterior fossa. Initial histopathologic diagnoses were highly variable, most commonly glioneuronal tumor (9), ependymoma (4), neuroepithelial tumor (4), pleomorphic xanthoastrocytoma (4), astroblastoma (3), high-grade glioma (3), sarcomatous tumor (2), ganglioglioma (1), and low-grade glioma NOS (1). EWSR1:PATZ1 fusion was identified in 16 cases and MN:PATZ1 in 14; one case lacked detectable rearrangement but showed concordant DNA methylation. Gross total resection (GTR) was achieved in 22 patients, near-total resection in 2, and subtotal resection in 7. Thirteen patients received adjuvant radiation therapy and 9 received chemotherapy. Recurrence occurred in 10 patients (32.5%), predominantly local; one patient developed spinal metastasis. Among the 12 patients managed with resection alone, 11 remained recurrence-free. Median follow-up was 49.2 months (range 3–180), with 30/31 patients alive at last follow-up.
Conclusion
NET-PATZ1 tumors demonstrate marked morphologic diversity, underscoring the importance of molecular diagnostics for accurate classification. Available data suggest a favorable overall prognosis, even in the setting of recurrence, and support consideration of observation following near-total or complete resection in select patients.