ArticleClinical cancer research : an official journal of the American Association for Cancer Research2009
Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers.
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87 citing papers in PubMed, 190 citations in OpenAlex.
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- Advances in the role of SWI/SNF complexes in tumours.Journal of cellular and molecular medicine · 2023Review
- Molecular testing of soft tissue tumors.Diagnostic cytopathology · 2023Review
- The genetic landscape of SMARCB1 alterations in SMARCB1-deficient spectrum of mesenchymal neoplasms.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Loss of SMARCB1 promotes autophagy and facilitates tumour progression in chordoma by transcriptionally activating ATG5.Cell proliferation · 2021Article
- Wedding of Molecular Alterations and Immune Checkpoint Blockade: Genomics as a Matchmaker.Journal of the National Cancer Institute · 2021Review
- Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.Familial cancer · 2021Article
- Histopathological patterns in atypical teratoid/rhabdoid tumors are related to molecular subgroup.Brain pathology (Zurich, Switzerland) · 2021Article
- A case of primary distal-type epithelioid sarcoma of the lumbar vertebra with a review of literature.Virchows Archiv : an international journal of pathology · 2021Review
- Sophisticated Conversations between Chromatin and Chromatin Remodelers, and Dissonances in Cancer.International journal of molecular sciences · 2021Review
- Identification of Potential Biomarkers of Prognosis-Related Long Non-Coding RNA (lncRNA) in Pediatric Rhabdoid Tumor of the Kidney Based on ceRNA Networks.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- Identification of Hub Genes in Atypical Teratoid/Rhabdoid Tumor by Bioinformatics Analyses.Journal of molecular neuroscience : MN · 2020Article
- SMARCB1 loss interacts with neuronal differentiation state to block maturation and impact cell stability.Genes & development · 2020Article
- An organoid biobank for childhood kidney cancers that captures disease and tissue heterogeneity.Nature communications · 2020Article
27 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
purposeA high-resolution genomic profiling and comprehensive targeted analysis of INI1/SMARCB1 of a large series of pediatric rhabdoid tumors was done. The aim was to identify regions of copy number change and loss of heterozygosity (LOH) that might pinpoint additional loci involved in the development or progression of rhabdoid tumors and define the spectrum of genomic alterations of INI1 in this malignancy. EXPERIMENTAL
designA multiplatform approach using Illumina single nucleotide polymorphism-based oligonucleotide arrays, multiplex ligation-dependent probe amplification, fluorescence in situ hybridization, and coding sequence analysis was used to characterize genome-wide copy number changes, LOH, and genomic alterations of INI1/SMARCB1 in a series of pediatric rhabdoid tumors.
resultsThe biallelic alterations of INI1 that led to inactivation were elucidated in 50 of 51 tumors. INI1 inactivation was shown by a variety of mechanisms, including deletions, mutations, and LOH. The results from the array studies highlighted the complexity of rearrangements of chromosome 22 compared with the low frequency of alterations involving the other chromosomes.
conclusionsThe results from the genome-wide single nucleotide polymorphism array analysis suggest that INI1 is the primary tumor suppressor gene involved in the development of rhabdoid tumors with no second locus identified. In addition, we did not identify hotspots for the breakpoints in sporadic tumors with deletions of chromosome 22q11.2. By employing a multimodality approach, the wide spectrum of alterations of INI1 can be identified in the majority of patients, which increases the clinical utility of molecular diagnostic testing.
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