Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney

Hitomi Ueno-Yokohata, Hajime Okita, Keiko Nakasato, Shingo Akimoto, Jun Ichi Hata, Tsugumichi Koshinaga, Masahiro Fukuzawa, Nobutaka Kiyokawa

研究成果: Article査読

81 被引用数 (Scopus)

抄録

Clear cell sarcoma of the kidney (CCSK) is one of the major pediatric renal neoplasms, but its associated genetic abnormalities are largely unknown. We identified internal tandem duplications in the BCOR gene (BCL6 corepressor) affecting the C terminus in 100% (20/20) of CCSK tumors but in none (0/193) of the other pediatric renal tumors. CCSK tumors expressed only an aberrant BCOR allele, indicating a close correlation between BCOR aberration and CCSK tumorigenesis.

本文言語English
ページ(範囲)861-863
ページ数3
ジャーナルNature genetics
47
8
DOI
出版ステータスPublished - 2015 8 30

ASJC Scopus subject areas

  • Genetics

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