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Updated: Jul 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
POLR2A Mutation is a Poor Prognostic Marker of Cerebellopontine Angle Meningioma
Atsushi Okano1, Satoru Miyawaki, Yu Teranishi
1Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo , Japan.
Background And Objectives:
Recent molecular analyses have shown that the driver genetic mutations of meningiomas were associated with the anatomic location. Among these, POLR2A mutation is common among lesions in the skull base, mainly in the cerebellopontine angle (CPA). The objective of this study was to investigate the efficacy of POLR2A mutation as a prognostic marker for CPA meningiomas.
Methods:
We retrospectively analyzed the clinical data of 70 patients who had World Health Organization grade I CPA meningiomas. Somatic DNA was analyzed by Sanger sequencing and microsatellite array to examine for NF2 , AKT1 , KLF4 , SMO , and POLR2A mutations and 22q loss. Genetic and clinical parameters were analyzed to identify the factors related with tumor recurrence.
Results:
We detected clearly the clinical features of the CPA cases with POLR2A mutation. Compared with cases without POLR2A mutation, cases with POLR2A mutation had more meningothelial type ( P = 6.9 × 10 -4 ), and higher rate of recurrence ( P = .04). We found that the poor prognostic factors associated with the recurrence of CPA meningiomas were POLR2A mutation ( P = .03, hazard ratio [HR] 9.38, 95% CI 1.26-70.0) and subtotal resection (STR) ( P = 5.1 × 10 -4 , HR 63.1, 95% CI 6.09-655.0). In addition, in the group that underwent STR, POLR2A mutation was a poor prognostic factor associated with tumor recurrence ( P = .03, HR 11.1, 95% CI 1.19-103.7).
Conclusion:
POLR2A mutation and STR were the poor prognostic markers associated with the recurrence of CPA meningioma. For CPA meningioma cases that underwent STR, only POLR2A mutation was a poor prognostic factor. Detecting POLR2A mutation may be a cost-effective, easy, and useful marker for prognostication.
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