High Frequency and Unique Subtypes of Meningioma in Patients with BAP1 Tumor Predisposition Syndrome

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Abstract Background BAP1 -tumor predisposition syndrome ( BAP1 -TPDS) is associated with four main cancers: uveal melanoma, cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. However, there are additional cancers found more rarely in BAP1 -TPDS patients. The aim of this study was to investigate the association, clinical, and pathologic characteristics of meningioma in BAP1 -TPDS. Methods We conducted a retrospective chart review of meningiomas in two independent cohorts of patients with germline BAP1 pathogenic or likely pathogenic (P/LP) variants at The Ohio State University Wexner Medical Center and at the Memorial Sloan Kettering Cancer Center from October 1 st , 2010 date to April 21 st , 2025. Additionally, we conducted a literature review of meningioma case studies for individuals with germline BAP1 (P/LP) variants. Results In a cohort of 237 subjects with BAP1 -TPDS, we identified 6.8% (16/237) with history of meningiomas. The average age of diagnosis was 45.8 years (17-71). For patients with available pathology, 61.5% (8/13) of the tumors were grade II/III. Patients with available tumor tissue 83.3% (5/6) showed evidence of BAP1 biallelic inactivation. Family history of meningioma was reported in 18.8% (3/16) of patients. Three cases of meningioma were identified during meningioma surveillance imaging. Published cases were consistent with the early age of onset, high-grade tumors, and clinical phenotype of tumors. Conclusions This study provides additional evidence that high-grade brain and spinal meningiomas are part of the clinical spectrum of BAP1 -TPDS. Craniospinal imaging surveillance in the BAP1 -TPDS population should be considered starting around puberty, enabling early detection and management for individuals with BAP1 -TPDS. Key Points High frequency of patients in our BAP1-TPDS cohort had meningiomas (6.8%) BAP1-TPDS meningiomas had rhabdoid and papillary histologic subtypes and high WHO grades These patients were diagnosed at a younger age compared to the average population There was a female predominance of meningioma in BAP1-TPDS patients BAP1-TPDS related meningiomas are at risk for higher rates of local recurrence, particularly rhabdoid histology Importance of the Study BAP1-tumor predisposition syndrome ( BAP1 -TPDS) is a rare syndrome which is associated with four cancers: uveal melanoma, cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. However, our group has observed additional cancers in these patients, including meningioma. Here, we present a retrospective chart review of 16 patients with germline pathogenic BAP1 variants and meningioma, representing 6.8% of our entire cohort of BAP1 -TPDS cases. We report that BAP1-TPDS patients are at higher risk of developing high-grade meningiomas and are diagnosed at an earlier age than the general population. Three meningiomas and one meningothelial cyst were observed during surveillance imaging in asymptomatic patients. Patient and family cancer history included other BAP1 -TPDS associated cancers, but only three patients had relatives with meningioma. Our findings indicate a need for routine craniospinal imaging in BAP1 -TPDS patients, and surveillance should include patients without family history of meningioma and patients under the age of 30.

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