ArticlePediatric blood & cancer2011
Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.
Article in Pediatric blood & cancer, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.European journal of human genetics : EJHG · 2018Pooled it
- Relevance of Molecular Groups in Children with Newly Diagnosed Atypical Teratoid Rhabdoid Tumor: Results from Prospective St. Jude Multi-institutional Trials.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Trial
- Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis.NPJ genomic medicine · 2026Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.Neuro-oncology · 2024Article
- Pediatric atypical teratoid/rhabdoid tumor in the cauda equina with rapid tumor progression: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Primary orbital rhabdoid tumour masquerading as atypical persistent foetal vasculature.BMJ case reports · 2024Article
- How Genetics and Genomics Advances Are Rewriting Pediatric Cancer Research and Clinical Care.Medicina (Kaunas, Lithuania) · 2022Review
- Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.The Journal of pathology · 2021Article
- Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.Familial cancer · 2021Article
- Genetic syndromes predisposing to pediatric brain tumors.Neuro-oncology practice · 2021Review
- Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.Frontiers in oncology · 2021Review
- Atypical teratoid rhabdoid tumor: molecular insights and translation to novel therapeutics.Journal of neuro-oncology · 2020Review
- Targeting BRD9 for Cancer Treatment: A New Strategy.OncoTargets and therapy · 2020Review
- Germline genetic landscape of pediatric central nervous system tumors.Neuro-oncology · 2019Review
- Case-based review: atypical teratoid/rhabdoid tumor.Neuro-oncology practice · 2019Review
- Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome.Pediatric blood & cancer · 2018Article
- Atypical teratoid rhabdoid tumor in a 65-year-old man presenting with disseminated leptomeningeal disease: A case report and review of the literature.SAGE open medical case reports · 2018Article
- The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.Human genetics · 2017Review
- Atypical teratoid/rhabdoid tumor in the sella turcica of an elderly female with a distinct vascular pattern and genetic alterations.Virchows Archiv : an international journal of pathology · 2016Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundCentral nervous system (CNS) atypical teratoid/rhabdoid tumors (AT/RT) are aggressive tumors usually diagnosed in young children and characterized by SMARCB1 (INI1, hSNF5) gene abnormalities. Despite initial chemo-radiation responsiveness, most children die of progressive disease (PD). Little data regarding familial AT/RT clinical course exist. This study described and compared familial (F) versus sporadic (S) AT/RT and elucidated SMARCB1 mutations and inheritance patterns.
methodsA retrospective chart review, pedigree, and SMARCB1 analysis were done.
resultsBetween January 1989 and June 2009, 20 children with CNS AT/RT were diagnosed, 8-S and 12-F. Median age at diagnosis (months) of S and F patient were: 13 and 4.8, respectively. Median survival (months) was S-21, F4.5, and 8-all. Pedigree analyses showed unaffected parent carriers with multiple affected offspring.
conclusionsChildren with F-AT/RT are younger, have more extensive disease, and are more likely to die from PD than children with S-AT/RT. Surgery, radiation, and chemotherapy were important in achieving long-term survival. Pedigree analysis supports autosomal dominant inheritance pattern with incomplete penetrance. Germline SMARCB1 mutation analysis is important in all patients diagnosed with AT/RT to (1) determine actual incidence of F-AT/RT, (2) determine penetrance of predisposing mutations, (3) provide appropriate genetic counseling, and (4) establish surveillance screening guidelines.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.