ArticleJournal of neurosurgery. Case lessons2022
Biallelic inactivation of PBRM1 as a molecular driver in a rare pineoblastoma case: illustrative case.
Article in Journal of neurosurgery. Case lessons, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes.Acta neuropathologica communications · 2025Article
- An incidental finding of a high-grade glioma with pleomorphic and pseudopapillary features (HPAP) with PBRM1 mutation.Journal of neuropathology and experimental neurology · 2024Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPineoblastomas are a rare and aggressive pediatric neuroectodermal tumor subtype. Because of their rarity, pineoblastomas are still poorly understood, and there is little research delineating their molecular development and underlying genetic phenotype. Recent multiomic studies in pineoblastomas and pineal parenchymal tumors identified four clinically and biologically relevant consensus groups driven by signaling/processing pathways; however, molecular level alterations leading to these pathway changes are yet to be discovered, hence the importance of individually profiling every case of this rare tumor type. OBSERVATIONS: The authors present the comprehensive somatic genomic profiling of a patient with pineoblastoma presenting with the loss of protein polybromo-1 (PBRM1) as a candidate genomic driver. Loss of PBRM1, a tumor suppressor, has been reported as a driver event in various cancer types, including renal cell carcinoma, bladder carcinoma, and meningiomas with papillary features. LESSONS: This is the first report presenting biallelic loss of PBRM1 as a candidate molecular driver in relation to pineoblastoma.
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