Giant Pediatric Rhabdoid Meningioma Associated with a Germline BAP1 Pathogenic Variation: A Rare Clinical Case

Ravanpay, Ali C.; Barkley, Ariana; White-Dzuro, Gabrielle A.; Cimino, Patrick J.; Gonzalez‐Cuyar, Luis F.; Lockwood, Christina M.; Halasz, Lia M.; Hisama, Fuki M.; Ferreira, Manuel

doi:10.1016/j.wneu.2018.06.227

Cited by 14 publications

(14 citation statements)

References 43 publications

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“…We hypothesize that the differential recurrence and survival rates of de novo versus secondary progressive tumors is a result of complex cytogenetic, molecular, and epigenetic modifications. Taken as a whole, lower grade meningioma tumorigenesis has been shown to be related to mutations in NF2, TRAF7, KLF4, AKT1, BAP 1, and SMO as well as germline mutations in SMARCB1, SMARCE1, and SUFU [21][22][23][24]. In addition, these mutations are associated with tumorigenesis at specific locations.For example, tumors with NF2 mutations typically localize to the convexity or posterior fossa skull base while tumors with SMO mutations are specific for the olfactory groove and planum sphenoidale [25].…”

Section: Discussionmentioning

confidence: 99%

WHO grade III meningioma: De novo tumors show improved progression free survival as compared to secondary progressive tumors

Ruzevick

Gibson

Tatman

et al. 2021

Journal of Clinical Neuroscience

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Emerging evidence suggest WHO grade III meningiomas that arise de novo as opposed to dedifferentiating from a lower grade may harbor differing prognoses. To investigate this, a single institution retrospective analysis of prospectively acquired patients between 1999 and 2018 was performed. Clinical data and radiographic parameters were reviewed to calculate progression free survival and overall survival in patients undergoing microsurgical resection. Next generation targeted sequencing of meningioma associated genes was performed on 11 tumors. Eighteen patients were identified as undergoing surgical resection of WHO grade III meningioma. Nine patients (50%) had de novo arising tumors and nine patients had secondary progressive tumors. To compare outcomes, only those patients undergoing gross total resection (Simpson grade I) were included for survival analysis. There was an improvement in median progression free survival for de novo resected tumors as compared to secondary progressive tumors (p = 0.02). Median overall survival for patients with de novo tumors was not statistically improved compared to that of secondary progressive tumors (p = 0.22). Next generation sequencing of targeted genes (NF2, BAP1, TRAF7, KLF4, SMO and AKT) revealed 5/11 tumors containing mutations in the NF2 gene, 2/11 containing BAP1 mutations, and a single tumor containing mutations in both NF2 and TRAF7. More mutations in NF2 and BAP1 were seen in the secondary progressive tumors.In conclusion, patients undergoing gross total resection for de novo arising grade III meningiomas showed improved progression free survival, though similar overall survival, as compared to those patients with secondary progressive tumors. Further studies focused on tumor associated genes and other associated risk factors are needed to improve risk-stratification.

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Section: Discussionmentioning

confidence: 99%

WHO grade III meningioma: De novo tumors show improved progression free survival as compared to secondary progressive tumors

Ruzevick

Gibson

Tatman

et al. 2021

Journal of Clinical Neuroscience

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“…The radiologic imaging using MRI starts at age 30 years except for MRI of the brain that starts at age 18 years given recent reports of meningiomas in children and young adults and the fact that meningiomas in these patients are more aggressive. 52,53 A related trial (NCT04431024) that is focused primarily on mesothelioma detection uses CT screening beginning at age 30 years (see subsequent discussion).…”

Section: Screening and Surveillance Of Bap1 Mutation Carriers And Cos...mentioning

confidence: 99%

Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations

Carbone

Pass

et al. 2022

Journal of Thoracic Oncology

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“…Germline BAP1 mutations cause a tumor syndrome composed of mesothelioma, cutaneous and uveal melanomas, meningioma, and renal cell carcinoma, amongst others [43]. BAP1 mutations are specifically associated with meningiomas with rhabdoid morphology and can occur in both the adult and pediatric population [44]. Shankar reported in a series of 14 meningiomas with rhabdoid features, that loss of BAP1 resulted in decreased progression free survival compared to those tumors without BAP1 mutations [25].…”

Section: Bap1mentioning

confidence: 99%

Advances in meningioma genomics, proteomics, and epigenetics: insights into biomarker identification and targeted therapies

2020

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Giant Pediatric Rhabdoid Meningioma Associated with a Germline BAP1 Pathogenic Variation: A Rare Clinical Case

Cited by 14 publications

References 43 publications

WHO grade III meningioma: De novo tumors show improved progression free survival as compared to secondary progressive tumors

WHO grade III meningioma: De novo tumors show improved progression free survival as compared to secondary progressive tumors

Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations

Advances in meningioma genomics, proteomics, and epigenetics: insights into biomarker identification and targeted therapies

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