ArticleBrain pathology (Zurich, Switzerland)2005
Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults.
Article in Brain pathology (Zurich, Switzerland), 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses 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.
The trial behind it
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
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 106 citations in OpenAlex.
- Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with meta-analysis and additional reports of 4 cases.Journal of neuro-oncology · 2022Pooled it
- Radiological image features of the atypical teratoid/rhabdoid tumor in adults: a systematic review.Clinical neuroradiology · 2015Pooled it
- Atypical Teratoid/Rhabdoid Tumor of the Lateral Ventricle: A Case Series and Experience with Molecular Subtyping-Guided Immunotherapy.Neurology international · 2026Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- Specific imaging features of sellar atypical teratoid/rhabdoid tumor or the lack of thereof.World journal of radiology · 2025Review
- Importance of symptoms acuity for clinical diagnosis of primary sellar atypical teratoid/rhabdoid tumor.World journal of clinical oncology · 2025Review
- A rare case of atypical teratoid rhabdoid tumor at the sellar region in an adult: Case report and review of literature.Brain & spine · 2024Review
- Sellar atypical teratoid/rhabdoid tumor in adults: survival analysis of treatment strategies. Illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- Primary adult sellar SMARCB1/INI1-deficient tumor represents a subtype of atypical teratoid/rhabdoid tumor.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Sellar Atypical Teratoid/Rhabdoid Tumors (AT/RT): A Systematic Review and Case Illustration.Cureus · 2022Review
- Atypical Teratoid Rhabdoid Tumor: A Possible Oriented Female Pathology?Frontiers in oncology · 2022Article
- An Adult Case of Sellar Atypical Teratoid/Rhabdoid Tumor Presenting with Lung Metastasis, Harboring a Compound Heterozygous Mutation in INI1.NMC case report journal · 2021Article
- A 71-year-old man with a rare rhabdoid brain tumour: using a multidisciplinary medical and rehabilitative model of care.BMJ case reports · 2020Article
- Adult Sellar Region Atypical Teratoid/Rhabdoid Tumor: A Retrospective Study and Literature Review.Frontiers in neurology · 2020Article
- Atypical teratoid/rhabdoid tumor presenting with subarachnoid and intraventricular hemorrhage.Surgical neurology international · 2019Article
- Multimodal treatments combined with gamma knife surgery for primary atypical teratoid/rhabdoid tumor of the central nervous system: a single-institute experience of 18 patients.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2018Article
- Primary intracerebral INI1-deficient rhabdoid tumor with CD34 immunopositivity in a young adult.Surgical neurology international · 2018Article
- A Systematic Review of Atypical Teratoid Rhabdoid Tumor in Adults.Frontiers in oncology · 2018Article
- Atypical Teratoid/ Rhabdoid Tumor of Brain: a Clinicopathologic Study of Eleven Patients and Review of LiteratureAsian Pacific journal of cancer prevention : APJCP · 2017Article
- Atypical Teratoid/Rhabdoid Tumor of the Sellar Region in an Adult With Long Survival: Case Report and Review of the Literature.Journal of clinical medicine research · 2017Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors that usually occur in the posterior fossa. Both AT/RT and the analogous tumor outside the brain, malignant rhabdoid tumor, share a polyphenotypic immunoprofile and frequent 22q deletions with inactivation of the IN11/hSNF5 gene. Reports, so far, indicate that AT/RTs occur almost exclusively in children, most of whom are 5-years-old or less. The rarity of the tumor and the polyphenotypic immunoprofile, characterized by antigen expression that is often patchy, make diagnosis in adults difficult and controversial. We describe three AT/RTs in adults in which the diagnoses were supported by detection of 22q11.2 deletions, INI1 mutation and/or loss of INI1 protein expression. Two patients were female, ages 20 and 31 and one was male, age 45. Two tumors occurred in the sella or sellar region and one in the cerebellum. In all cases, fluorescence in situ hybridization with probes to the BCR (22q11.2) and NF2 (22q12) regions of chromosome 22 revealed single copy deletions of BCR with normal dosages of NF2 and, in all cases, immunohistochemistry demonstrated loss of INI1 protein expression. In one case, a single base pair deletion was detected in the INI1/hSNF5 gene. These molecular findings confirm the occurrence of AT/RTs in adults. Although rare, AT/RT should be considered in the differential diagnosis of poorly differentiated intracranial tumors in adults.
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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.