Recurrent TRAF7-mutated meningioma: Molecular evolution and therapeutic insights

复发性TRAF7突变型脑膜瘤:分子演化和治疗见解

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Abstract

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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