ArticleBrain pathology (Zurich, Switzerland)2013
Loss of INI1 protein expression defines a subgroup of aggressive central nervous system primitive neuroectodermal tumors.
Article in Brain pathology (Zurich, Switzerland), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 28 citations in OpenAlex.
- Understanding and Managing Pineal Parenchymal Tumors of Intermediate Differentiation: An In-Depth Exploration from Pathology to Adjuvant Therapies.Journal of clinical medicine · 2024Review
- Evaluation of INI1 Protein Expression Through IHC Study in Pediatric High-Grade Brain Tumors in South of Iran in 2008-2021.Iranian journal of pathology · 2023Article
- Atypical teratoid/rhabdoid tumour in the pineal and suprasellar regions: report of 2 cases and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Review
- Molecular pathology of tumors of the central nervous system.Annals of oncology : official journal of the European Society for Medical Oncology · 2019Review
- Incidence of childhood CNS tumours in Britain and variation in rates by definition of malignant behaviour: population-based study.BMC cancer · 2019Article
- Molecular Classification and Management of Rare Pediatric Embryonal Brain Tumors.Current oncology reports · 2018Review
- Exploration of Involved Key Genes and Signaling Diversity in Brain Tumors.Cellular and molecular neurobiology · 2018Review
- Integrated bioinformatic analysis unveils significant genes and pathways in the pathogenesis of supratentorial primitive neuroectodermal tumor.OncoTargets and therapy · 2018Article
- The Continuing Value of Ultrastructural Observation in Central Nervous System Neoplasms in Children.Journal of pathology and translational medicine · 2015Review
- Atypical teratoid rhabdoid tumors of the posterior fossa in children.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2015Article
- Alisertib is active as single agent in recurrent atypical teratoid rhabdoid tumors in 4 children.Neuro-oncology · 2015Article
- Primary intracranial Ewing's sarcoma with unusual features.International journal of clinical and experimental pathology · 2015Article
- Primary atypical teratoid/rhabdoid tumor of central nervous system in children: a clinicopathological analysis and review of literature in China.International journal of clinical and experimental pathology · 2014Review
- Bone involvement in atypical teratoid/rhabdoid tumors of the CNS.AJNR. American journal of neuroradiology · 2013Article
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Authors and funding
5 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Pediatric embryonal brain tumors can be difficult to classify. Atypical teratoid rhabdoid tumors (ATRT) contain rhabdoid cells, while primitive neuroectodermal tumors (PNETs) are composed of "small round blue cells." Loss of INI1 is a common event in ATRT; therefore, we investigated if the loss of INI1 protein expression was also observed in central nervous system (CNS) PNET and pineoblastoma. A histological review of 42 CNS PNETs and six pineoblastomas was performed. INI1 expression was assessed by immunohistochemistry. Sequencing was performed on the mutational hotspots of INI1. INI1-immunonegative tumors were further investigated using fluorescence in situ hybridization. Epithelial membrane antigen (EMA) protein expression was assessed in six CNS PNETs to further define the phenotype. Five CNS PNETs without rhabdoid cell morphology were immuno-negative for both INI1 and EMA. Of these primary CNS PNET patients, three died <11 months postdiagnosis, which was dissimilar to the INI1-immunopositive primary CNS PNETs where 18/24 (75%) patients were alive 1 year postdiagnosis. We have identified a small subgroup of CNS PNETs which lack INI1 protein expression, but have no evidence of rhabdoid cell morphology. INI1 protein loss may occur through mechanisms other than gene deletion. INI1 immunohistochemistry should be performed for all CNS PNET cases.
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