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

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. John Hicks, Dinesh Rakheja, Patrick J. Leavey, Stephen X. Skapek, James F. Amatruda, Jed G. Nuchtern, Murali M. Chintagumpala, David A. Wheeler, Sharon E. Plon, Pavel Sumazin and D. Williams Parsons ()
Additional contact information
Angshumoy Roy: Baylor College of Medicine
Vijetha Kumar: Baylor College of Medicine
Barry Zorman: Baylor College of Medicine
Erica Fang: Baylor College of Medicine
Katherine M. Haines: Baylor College of Medicine
HarshaVardhan Doddapaneni: Baylor College of Medicine
Oliver A. Hampton: 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
Karen W. Eldin: Baylor College of Medicine
M. John Hicks: Baylor College of Medicine
Dinesh Rakheja: 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
Murali M. Chintagumpala: Texas Children’s Cancer Center
David A. Wheeler: Baylor College of Medicine
Sharon E. Plon: Texas Children’s Cancer Center
Pavel Sumazin: Texas Children’s Cancer Center
D. Williams Parsons: Texas Children’s Cancer Center

Nature Communications, 2015, vol. 6, issue 1, 1-7

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms9891

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