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Darlene Gabeau-Lacet, Manish Aghi, Rebecca A. Betensky, Fred G. Barker, Jay S. Loeffler and David N. Louis

Object

The authors identified clinical features associated with progression and death in atypical meningioma (AM).

Methods

Forty-seven cases of primary AM treated at Massachusetts General Hospital were retrospectively evaluated for clinical features. Associations with progression-free survival (PFS) and overall survival were assessed.

Results

The estimated median PFS was 56 months (95% CI 35 months–not estimable). The overall 3- and 5-year PFS rates were 65% (95% CI 44–80%) and 48% (95% CI 26–67%), respectively. The median survival time and 5- and 10-year survival rates were 158 months (95% CI 103 months–not estimable), and 86% (95% CI 69–94%) and 61% (95% CI 35–79%), respectively. Subtotal resection was associated with increased rate of progression compared to gross-total resection (p = 0.05) and trended toward an association with decreased survival (p = 0.09). Bone involvement was associated with an increased rate of disease progression (p = 0.001) and decreased survival (p = 0.04). Bone involvement remained significantly associated with progression after Bonferroni adjustment for multiple comparisons (p = 0.008) and in bivariate Cox regression models. Seventy-eight percent of patients with bone involvement at primary diagnosis had tumor recurrence within bone, whereas only 25% of patients without evidence of bone invasion at primary diagnosis experienced osseous recurrence.

Conclusions

Osseous involvement is associated with a poor outcome in patients with AMs; bone assessment is therefore extremely important. Further investigation is warranted to assess the effectiveness of bone resection and/or bone-directed radiation therapy in improving outcome.

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Manish Aghi, Lan Kluwe, Micah T. Webster, Lee B. Jacoby, Fred G. Barker II, Robert G. Ojemann, Victor-Felix Mautner and Mia MacCollin

Object

Although the manifestations of neurofibromatosis Type 2 (NF2) vary, the hallmark is bilateral vestibular schwannomas (VSs). The authors studied the clinical course and genetic basis of unilateral VSs associated with other NF2-related tumors.

Methods

Forty-four adults presenting with unilateral VSs and other NF2-related tumors were identified. A comprehensive review of patient records and cranial imaging was conducted. Molecular analysis of the NF2 locus was performed in available tumors and paired blood specimens. Patient age at symptomatic onset ranged from 11 to 63 years (mean 32 years). Twenty-two patients (50%) presented with eighth cranial nerve dysfunction. Twenty-six presented with multiple lesions. Thirty-eight harbored other intracranial tumors and 27 had spinal tumors, with most lesions situated ipsilateral to the VS. No patient had a relative with NF2, although two of 63 offspring had isolated NF2-related findings. A contralateral VS developed in four patients 3 to 46 years after the symptomatic onset of a unilateral VS, and two of these patients experienced rapid progression to total deafness. Results of a Kaplan–Meier analysis identified actuarial chances of developing contralateral VS: 2.9% (3–17 years after the VS symptomatic onset of unilateral VS), 11% (18–24 years), and 28.8% (25–40 years). Mosaicism for the NF2 gene mutation was proven in eight patients.

Conclusions

The authors describe the clinical features of this unique phenotype—unilateral VS with other NF2-related tumors. Persons with this phenotype should undergo evaluation and monitoring similar to that conducted in patients with NF2, and the possibility of aggressive contralateral VS formation should be considered in their treatment. Molecular genetic analysis is best performed using resected tumor specimens and will enable future studies to determine the genetic risks of individuals with mosaicism.