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

Research output: Contribution to journalArticle

78 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)861-863
Number of pages3
JournalNature Genetics
Volume47
Issue number8
DOIs
Publication statusPublished - 2015 Aug 30

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney'. Together they form a unique fingerprint.

  • Cite this

    Ueno-Yokohata, H., Okita, H., Nakasato, K., Akimoto, S., Hata, J. I., Koshinaga, T., Fukuzawa, M., & Kiyokawa, N. (2015). Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney. Nature Genetics, 47(8), 861-863. https://doi.org/10.1038/ng.3338