ArticleBritish journal of cancer2008
Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.
Article in British journal of cancer, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 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
- Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms.International journal of molecular sciences · 2026Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- Novel germline and somatic variants in familial and sporadic meningioma genes.NPJ genomic medicine · 2025Article
- Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.European journal of human genetics : EJHG · 2024Article
- Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.iScience · 2023Article
- Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.Familial cancer · 2021Article
- Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.The Journal of pathology · 2021Article
- Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.Frontiers in oncology · 2021Review
- Targeting BRD9 for Cancer Treatment: A New Strategy.OncoTargets and therapy · 2020Review
- Dangerous liaisons: interplay between SWI/SNF, NuRD, and Polycomb in chromatin regulation and cancer.Genes & development · 2019Review
- Long-Term Remission of a Spinal Atypical Teratoid Rhabdoid Tumor in Response to Intensive Multimodal Therapy.Case reports in pediatrics · 2019Article
- Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.Brain pathology (Zurich, Switzerland) · 2017Article
- Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Review
- 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
- Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies.Neuro-oncology · 2016Review
- Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways.Cancer cell · 2016Article
- Rhabdoid Variant of Myoepithelial Carcinoma, with EWSR1 Rearrangement: Expanding the Spectrum of EWSR1-Rearranged Myoepithelial Tumors.Head and neck pathology · 2015Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rhabdoid tumour predisposition syndrome (RTPS) is a rare syndrome caused by inheritance of a mutated INI1 gene for which only two multigeneration families have been reported. To further characterise the genotype and phenotype of RTPS, we present a third family in which at least three cousins developed an atypical teratoid/rhabdoid tumour (AT/RT) at a young age. Two of these patients showed unusual long survival, and one of these developed an intracranial meningioma and a myoepithelioma of the lip in adulthood. Mutation analysis of INI1 revealed a germline G>A mutation in the donor splice site of exon 4 (c.500+1G>A) in the patients and in their unaffected fathers. This mutation prevents normal splicing and concomitantly generates a stop codon, resulting in nonsense-mediated mRNA decay. Biallelic inactivation of INI1 in the tumours, except for the meningioma, was confirmed by absence of nuclear INI1-protein staining. The myoepithelioma of one of the patients carried an identical somatic rearrangement in the NF2 gene as the AT/RT, indicating that both tumours originated from a common precursor cell. In conclusion, this study demonstrates for the first time transmission of a germline INI1-mutation in a RTPS family via nonpenetrant males, long-term survival of two members of this family with an AT/RT, and involvement of INI1 in the pathogenesis of myoepithelioma.
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