Recurrent TRAF7-mutated meningioma: Molecular evolution and therapeutic insights
Meningiomas are the most common primary intracranial tumors, with TRAF7 mutations identified in ~25% of cases. These mutations, associated with NFκB pathway activation, are linked to higher recurrence rates than other low-grade-associated mutations. We report a 49-year-old Caucasian woman with recur...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2025-08-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X251363340 |
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| Summary: | Meningiomas are the most common primary intracranial tumors, with TRAF7 mutations identified in ~25% of cases. These mutations, associated with NFκB pathway activation, are linked to higher recurrence rates than other low-grade-associated mutations. We report a 49-year-old Caucasian woman with recurrent TRAF7-mutated World Health Organization Grade 2 meningiomas. Initially diagnosed with World Health Organization Grade 1 meningiomas in 2015, her disease progressed to Grade 2 chordoid meningioma by 2021. Molecular profiling revealed a TRAF7 exon 20 (p.R653Q) mutation and PMS2 deletion. Multiple surgical resections, radiation, and systemic therapies, including lanreotide, bevacizumab, and pembrolizumab, were employed, with pembrolizumab showing a favorable response due to mismatch repair deficiency. This case highlights the molecular and histological evolution of TRAF7-mutated meningiomas and the potential of immunotherapy in recurrent cases. The absence of targeted therapies for TRAF7-positive tumors underscores the need for mutation-specific clinical trials. |
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| ISSN: | 2050-313X |