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Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney

Author

Listed:
  • Angshumoy Roy

    (Baylor College of Medicine
    Texas Children’s Hospital
    Texas Children’s Cancer Center
    Baylor College of Medicine)

  • Vijetha Kumar

    (Baylor College of Medicine
    Texas Children’s Hospital)

  • Barry Zorman

    (Baylor College of Medicine)

  • Erica Fang

    (Baylor College of Medicine
    Texas Children’s Hospital)

  • Katherine M. Haines

    (Baylor College of Medicine)

  • HarshaVardhan Doddapaneni

    (Baylor College of Medicine
    Human Genome Sequencing Center, Baylor College of Medicine)

  • Oliver A. Hampton

    (Baylor College of Medicine
    Human Genome Sequencing Center, Baylor College of Medicine)

  • Simon White

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Abhishek A. Bavle

    (Baylor College of Medicine)

  • Nimesh R. Patel

    (Baylor College of Medicine
    Texas Children’s Hospital)

  • Karen W. Eldin

    (Baylor College of Medicine
    Texas Children’s Hospital)

  • M. John Hicks

    (Baylor College of Medicine
    Texas Children’s Hospital
    Texas Children’s Cancer Center
    Baylor College of Medicine)

  • Dinesh Rakheja

    (University of Texas Southwestern Medical Center
    Children’s Medical Center
    University of Texas Southwestern Medical Center)

  • Patrick J. Leavey

    (University of Texas Southwestern Medical Center)

  • Stephen X. Skapek

    (University of Texas Southwestern Medical Center)

  • James F. Amatruda

    (University of Texas Southwestern Medical Center)

  • Jed G. Nuchtern

    (Texas Children’s Cancer Center
    Dan L. Duncan Cancer Center, Baylor College of Medicine
    Baylor College of Medicine
    Texas Children's Hospital)

  • Murali M. Chintagumpala

    (Texas Children’s Cancer Center
    Baylor College of Medicine
    Dan L. Duncan Cancer Center, Baylor College of Medicine)

  • David A. Wheeler

    (Baylor College of Medicine
    Human Genome Sequencing Center, Baylor College of Medicine)

  • Sharon E. Plon

    (Texas Children’s Cancer Center
    Baylor College of Medicine
    Dan L. Duncan Cancer Center, Baylor College of Medicine
    Baylor College of Medicine)

  • Pavel Sumazin

    (Texas Children’s Cancer Center
    Baylor College of Medicine)

  • D. Williams Parsons

    (Texas Children’s Cancer Center
    Baylor College of Medicine
    Dan L. Duncan Cancer Center, Baylor College of Medicine
    Baylor College of Medicine)

Abstract

The X-linked BCL-6 co-repressor (BCOR) gene encodes a key constituent of a variant polycomb repressive complex (PRC) that is mutated or translocated in human cancers. Here we report on the identification of somatic internal tandem duplications (ITDs) clustering in the C terminus of BCOR in 23 of 27 (85%) pediatric clear cell sarcomas of the kidney (CCSK) from two independent cohorts. We profile CCSK tumours using a combination of whole-exome, transcriptome and targeted sequencing. Identical ITD mutations are found in primary and relapsed tumour pairs but not in adjacent normal kidney or blood. Mutant BCOR transcripts and proteins are markedly upregulated in ITD-positive tumours. Transcriptome analysis of ITD-positive CCSKs reveals enrichment for PRC2-regulated genes and similarity to undifferentiated sarcomas harbouring BCOR–CCNB3 fusions. The discovery of recurrent BCOR ITDs defines a major oncogenic event in this childhood sarcoma with significant implications for diagnostic and therapeutic approaches to this tumour.

Suggested Citation

  • Angshumoy Roy & Vijetha Kumar & Barry Zorman & Erica Fang & Katherine M. Haines & HarshaVardhan Doddapaneni & Oliver A. Hampton & Simon White & Abhishek A. Bavle & Nimesh R. Patel & Karen W. Eldin & M, 2015. "Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney," Nature Communications, Nature, vol. 6(1), pages 1-7, December.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms9891
    DOI: 10.1038/ncomms9891
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