High frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome

Our plain-English summary of High frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome, by K.A. Ramsey, L. Byrne, O.B. Taylor, et al (Journal of Neuro-oncology, 2026).

The study

• Authors: K.A. Ramsey, L. Byrne, O.B. Taylor, A. Soliman, E. Schreiner, I. Gray, A. Latham, R. Sheikh, S.S. Ahmadian, R.R. Lonser, J.D. Palmer, M.I. Carlo, C.M. Cebulla, M.H. Abdel-Rahman
• Journal: Journal of Neuro-oncology
• Published: 2026;176(3):207
• Cited by: 2 articles, as counted by NIH iCite
• Read it: PubMed · Publisher · Free full text

Abstract

PURPOSE: BAP1-tumor predisposition syndrome (BAP1-TPDS) is associated with four main cancers: uveal melanoma, cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. However, additional cancers are 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 1st, 2010 date to April 21st, 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 a history of meningiomas. The average age of diagnosis was 44.5 years (17–71). For patients with available pathology, 61.5% (8/13) of the tumors were grade 2/3. 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. Four cases of meningioma were identified during meningioma surveillance imaging, and five cases had recurrences after treatment. Published cases were consistent with the early age of onset, high-grade tumors, and clinical phenotype of tumors. CONCLUSION: 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.

In plain English

This retrospective chart review looked for meningioma among 237 people with inherited (germline) harmful BAP1 gene variants, a condition called BAP1 tumor predisposition syndrome. There were 195 patients at The Ohio State University and 42 at Memorial Sloan Kettering Cancer Center, reviewed from October 2010 to April 2025. The authors also reviewed 13 published cases. Meningioma was found in 16 of the 237 (6.8%): 13 confirmed by pathology and 3 presumed from imaging. The mean age at diagnosis was 44.5 years, and 4 of the 16 were diagnosed before age 30, the youngest at 17. Of 10 tumors with a WHO grade, 8 were grade 2 or 3. Tissue staining showed BAP1 loss in 5 of 6 tumors tested. Five of 12 patients with follow-up had a local recurrence. Two of the 16 had also had mesothelioma, and 5 had relatives with mesothelioma. The authors concluded that high-grade brain and spinal meningiomas are part of this syndrome and that imaging surveillance should be considered starting around puberty. They noted the cohort was small.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: Retrospective chart review of two institutional cohorts, plus a literature review of published cases
• Who was studied: 237 people with germline BAP1 pathogenic or likely pathogenic variants (195 at The Ohio State University Wexner Medical Center, 42 at Memorial Sloan Kettering Cancer Center, USA), October 1, 2010 to April 21, 2025. The literature review added 13 published patients, two of whom are also in the Ohio State cohort.
• Exposure: Carrying an inherited loss-of-function BAP1 variant (BAP1 tumor predisposition syndrome). The study did not assess asbestos or any fiber exposure.
• Main results:
  • Meningioma was found in 16 of 237 patients (6.8%): 13 of 195 at Ohio State and 3 of 42 at Memorial Sloan Kettering. 13 cases were pathology-confirmed and 3 were radiologically presumed.
  • In the 16 cohort patients, the mean age at presentation was 44.5 years (median 46).
  • In the cohort, 4 of 16 cases were diagnosed before age 30 and as young as 17. The same was true of 3 of 12 cases in the literature review.
  • Among the 13 pathology-confirmed cohort meningiomas: 5/13 rhabdoid, 4/13 atypical with unspecified subtype, 1/13 papillary, 1/13 both papillary and rhabdoid, 1/13 transitional/mixed.
  • Of 10 cohort tumors with WHO grading, 2/10 were grade 1, 4/10 grade 2 and 4/10 grade 3, so 8/10 were high-grade.
  • Six Ohio State tumors with archived tissue were re-graded under the 2021 WHO criteria. Two were downgraded.
  • Immunohistochemistry showed BAP1 loss in the tumors of 5 Ohio State patients. BAP1 expression was preserved in one (OSU-9).
  • Four asymptomatic cohort patients had tumors found on surveillance imaging done because of their known BAP1 variant.
  • Among cohort patients with follow-up data, 5 of 12 (41.7%) had a local recurrence.
  • Of the 16 cohort patients, 3 had a 1st or 2nd degree relative with meningioma (including a mother and daughter in the cohort). 13/16 had relatives with BAP1-associated cancers, including mesothelioma in 5/16.
  • 10 of the 16 cohort patients had a separate primary tumor, including mesothelioma in 2/16 (type not specified in the text).
  • The literature review found 13 patients with BAP1 variants and meningioma. Mean age at diagnosis was 46.7 years (median 56). Of 10 with histopathology, 6/10 were predominantly rhabdoid, 2/10 papillary and 2/10 both.
• The authors' conclusion: The authors concluded that high-grade brain and spinal meningiomas are part of the clinical spectrum of BAP1 tumor predisposition syndrome. They stated that craniospinal imaging surveillance should be considered starting around puberty.
• Limitations the authors state:
  • The Ohio State cohort is enriched in patients with uveal melanoma and with personal or family cancer histories consistent with the syndrome.
  • The cohort is relatively small because the syndrome is rare.
  • Some patients lacked follow-up information, and only part of the cohort had standardized craniospinal imaging.
  • Some lesions were presumed from imaging or had no tissue or pathology reports, so the diagnosis could not be confirmed with certainty.
  • Molecular testing (CDKN2A/B, TERT, NF2, TRAF7) was done on only a small part of the cohort.

Topics

Medical terms in this study, explained in our Lexicon: BAP1 Tumor Predisposition Syndrome, BAP1, Mesothelioma, Carcinoma, Memorial Sloan Kettering, Pathology.

Related studies

• High Frequency and Unique Subtypes of Meningioma in Patients with BAP1 Tumor Predisposition Syndrome — K.A. Ramsey, L. Byrne, et al. (2025)
• Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases — K. Rai, R. Pilarski, et al. (2016)
• Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases — R. Pilarski, C.M. Cebulla, et al. (2014)
• Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome? — A. Angelousi, N. Settas, et al. (2017)
• Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome — M.C. Kaszuba, J.S. Pulido, et al. (2018)
• Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors — M. Cheung, Y. Kadariya, et al. (2021)

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