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

doi:10.1038/ng.3338

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

Division of Diagnostic Pathology

Research output: Contribution to journal › Article › peer-review

151 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 language	English
Pages (from-to)	861-863
Number of pages	3
Journal	Nature genetics
Volume	47
Issue number	8
DOIs	https://doi.org/10.1038/ng.3338
Publication status	Published - 2015 Aug 30

ASJC Scopus subject areas

Genetics

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10.1038/ng.3338

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title = "Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney",

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.",

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T1 - Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney

AU - Ueno-Yokohata, Hitomi

AU - Okita, Hajime

AU - Nakasato, Keiko

AU - Akimoto, Shingo

AU - Hata, Jun Ichi

AU - Koshinaga, Tsugumichi

AU - Fukuzawa, Masahiro

AU - Kiyokawa, Nobutaka

PY - 2015/8/30

Y1 - 2015/8/30

N2 - 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.

AB - 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.

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UR - https://www.scopus.com/pages/publications/84938292803#tab=citedBy

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JO - Nature genetics

JF - Nature genetics

IS - 8

ER -

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

Abstract

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