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

病理診断部

研究成果: Article › 査読

151 被引用数 (Scopus)

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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
巻	47
号	8
DOI	https://doi.org/10.1038/ng.3338
出版ステータス	Published - 2015 8月 30

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遺伝学

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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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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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SP - 861

EP - 863

JO - Nature genetics

JF - Nature genetics

IS - 8

ER -

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

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