Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

@article{Versteege1998TruncatingMO,
  title={Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer},
  author={Isabella Versteege and Nicolas Sevenet and Julian Lange and Marie-Françoise Rousseau-Merck and Peter F. Ambros and Rupert Handgretinger and Alain Aurias and Olivier Delattre},
  journal={Nature},
  year={1998},
  volume={394},
  pages={203-206}
}
Malignant rhabdoid tumours (MRTs) are extremely aggressive cancers of early childhood. They can occur in various locations, mainly the kidney, brain and soft tissues,. Cytogenetic and molecular analyses have shown that the deletion of region 11.2 of the long arm of chromosome 22 (22q11.2) is a recurrent genetic characteristic of MRTs, indicating that this locus may encode a tumour suppressor gene. Here we map the most frequently deleted part of chromosome 22q11.2 from a panel of 13 MRT cell… 
Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.
TLDR
It is suggested that rhabdoid tumors, choroid plexus carcinomas and a subset of medulloblastomas and cPNETs share common pathways of oncogenesis related to hSNF5/INI1 alteration and that hSNf5/inI1 mutations define a genetically homogeneous family of highly aggressive cancers mainly occurring in young children and frequently, but not always, exhibiting a rhabDoid phenotype.
INI1 mutations in meningiomas at a potential hotspot in exon 9
TLDR
The data indicate that the INI1 is a second tumour suppressor gene on chromosome 22 that may be important for the genesis of meningiomas.
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.
TLDR
Constitutional mutation of the hSNF5/INI1 gene defines a new hereditary syndrome predisposing to renal or extrarenal MRT and to a variety of tumors of the CNS, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumor.
Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors
TLDR
The results suggest that alterations of the hSNF5/INI1 gene were restricted to MRTs or AT/RTs in pediatric solid tumors.
Human medulloblastomas lack point mutations and homozygous deletions of the hSNF5/INI1 tumour suppressor gene
TLDR
This study virtually rules out hSNF5/INI1 as a tumour suppressor gene involved in the pathogenesis of medulloblastoma.
SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas.
TLDR
Results point to SMARCB1/INI1 gene involvement in the genesis and/or progression of epithelioid sarcomas and the number of cases with SMAR CB1/InI1 inactivation is confirmed to 6 of 11 cases.
HSNF5/INI1 gene mutations in lymphoid malignancy.
Mutational analysis of INI1 in sporadic human brain tumors
TLDR
The data suggest that INi1 mutations are involved in the pathogenesis of plexus carcinoma; however, INI1 alterations are not a frequent event in the majority of brain tumor entities.
Genetics and Genomics of Malignant Rhabdoid Tumours
TLDR
MRTs offer a unique model for studying the role of epigenetics in driving tumourigenesis and for the development of novel treatment approaches, as well as highlighting the key mechanisms by which SNF5/INI1 loss induces MRT development.
No evidence for hypermethylation of the hSNF5/INI1 promoter in pediatric rhabdoid tumors
TLDR
This study employed bisulfite modification, polymerase chain reaction, and sequence analysis to determine the methylation status of the cytosine nucleotides in the predicted promoter region of the INI1 gene, and two GC repeat regions in intron 1.
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TLDR
The data suggest that there is a gene in chromosome 22, probably a tumor suppressor, inactivation of which may be involved in the genesis of renal rhabdoid tumors, and a second gene in chromosomes segment 11p15.5, in the region of the putative WT2 gene, may also be involved.
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TLDR
The similarity in cytogenetic and molecular abnormalities between renal and extra‐renal MRTs argues against the concept that extra-renalMRTs are only representative of a rhabdoid phenotype, rather than being true rhabDoid tumors.
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TLDR
The completion of a cosmid and yeast artificial chromosome contig spanning the immunoglobulin lambda gene locus to BCR has allowed us to map a critical region for a rhabdoid tumor gene to a 500 kb span of chromosome segment 22q11.
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TLDR
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TLDR
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TLDR
Assays of growth kinetics associated with cellular transformation revealed that fibroblasts from the affected sibling can be distinguished from those of the parents and age‐matched controls by increased in vitro occurrence of tetraploidy, suggesting that increased inocytes occurring spontaneously in cultured fibro Blasts is an expression of a cancer‐prone gene.
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TLDR
Observations suggest that "rhabdoid tumors" are a heterogeneous group of lesions with dissimilar lineages of differentiation, and particularly in CERTs, it is likely that the rhabdoids phenotype represents a common end point of clonal evolution in tumors of clearly different origins.
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TLDR
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