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Roy, Angshumoy; Kumar, Vijetha; Zorman, Barry; Fang, Erica; Haines, Katherine M; Doddapaneni, HarshaVardhan; Hampton, Oliver A; White, Simon; Bavle, Abhishek A; Patel, Nimesh R; Eldin, Karen W; John Hicks, M; Rakheja, Dinesh; Leavey, Patrick J; Skapek, Stephen X; Amatruda, James F; Nuchtern, Jed G; Chintagumpala, Murali M; Wheeler, David A; Plon, Sharon E; Sumazin, Pavel; Parsons, D Williams
Nature communications, 11/2015, Letnik: 6, Številka: 1Journal Article
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.
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in: SICRIS
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