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Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

Author

Listed:
  • Isabella Versteege

    (Laboratoire de Pathologie Moléculaire des Cancers, Section de Recherche, Institut Curie)

  • Nicolas Sévenet

    (Laboratoire de Pathologie Moléculaire des Cancers, Section de Recherche, Institut Curie)

  • Julian Lange

    (Laboratoire de Pathologie Moléculaire des Cancers, Section de Recherche, Institut Curie)

  • Marie-Françoise Rousseau-Merck

    (Laboratoire de Pathologie Moléculaire des Cancers, Section de Recherche, Institut Curie)

  • Peter Ambros

    (CCRI, St Anna Kinderspital, Kinderspitalgasse 6)

  • Rupert Handgretinger

    (Universität Kinderklinik, Rümelinstrasse 23)

  • Alain Aurias

    (Laboratoire de Pathologie Moléculaire des Cancers, Section de Recherche, Institut Curie)

  • Olivier Delattre

    (Laboratoire de Pathologie Moléculaire des Cancers, Section de Recherche, Institut Curie)

Abstract

Malignant rhabdoid tumours (MRTs) are extremely aggressive cancers of early childhood. They can occur in various locations, mainly the kidney, brain and soft tissues1,2. 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 gene3,4,5,6,7,8. Here we map the most frequently deleted part of chromosome 22q11.2 from a panel of 13 MRT cell lines. We observed six homozygous deletions that delineate the smallest region of overlap between the cell lines. This region is found in the hSNF5/INI1 gene, which encodes a member of the chromatin-remodelling SWI/SNF multiprotein complexes9,10,11,12. We analysed the sequence of hSNF5/INI1 and found frameshift or nonsense mutations of this gene in six other cell lines. These truncating mutations of one allele were associated with the loss of the other allele. Identical alterations were observed in corresponding primary tumour DNAs but not in matched constitutional DNAs, indicating that they had been acquired somatically. The observation of bi-allelic alterations of hSNF5/INI1 in MRTs suggests that loss-of-function mutations of hSNF5/INI1 contribute to oncogenesis.

Suggested Citation

  • Isabella Versteege & Nicolas Sévenet & Julian Lange & Marie-Françoise Rousseau-Merck & Peter Ambros & Rupert Handgretinger & Alain Aurias & Olivier Delattre, 1998. "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer," Nature, Nature, vol. 394(6689), pages 203-206, July.
    • Handle: RePEc:nat:nature:v:394:y:1998:i:6689:d:10.1038_28212
    DOI: 10.1038/28212
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    Cited by:

    1. Ning Qing Liu & Irene Paassen & Lars Custers & Peter Zeller & Hans Teunissen & Dilara Ayyildiz & Jiayou He & Juliane Laura Buhl & Eelco Wieger Hoving & Alexander Oudenaarden & Elzo Wit & Jarno Drost, 2023. "SMARCB1 loss activates patient-specific distal oncogenic enhancers in malignant rhabdoid tumors," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    2. Monika Graf & Marta Interlandi & Natalia Moreno & Dörthe Holdhof & Carolin Göbel & Viktoria Melcher & Julius Mertins & Thomas K. Albert & Dennis Kastrati & Amelie Alfert & Till Holsten & Flavia de Far, 2022. "Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors," Nature Communications, Nature, vol. 13(1), pages 1-19, December.
    3. Ulrik Kristoffer Stoltze & Jon Foss-Skiftesvik & Thomas van Overeem Hansen & Simon Rasmussen & Konrad J. Karczewski & Karin A. W. Wadt & Kjeld Schmiegelow, 2024. "The evolutionary impact of childhood cancer on the human gene pool," Nature Communications, Nature, vol. 15(1), pages 1-15, December.

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