1. Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney.
- Author
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Ueno-Yokohata H, Okita H, Nakasato K, Akimoto S, Hata J, Koshinaga T, Fukuzawa M, and Kiyokawa N
- Subjects
- Amino Acid Sequence, Base Sequence, Blotting, Western, Child, Female, Gene Expression Regulation, Neoplastic, HEK293 Cells, Humans, Immunohistochemistry, Kidney Neoplasms metabolism, Molecular Sequence Data, Proto-Oncogene Proteins metabolism, Repressor Proteins metabolism, Reverse Transcriptase Polymerase Chain Reaction, Sarcoma, Clear Cell metabolism, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Sequence Homology, Nucleic Acid, Kidney Neoplasms genetics, Proto-Oncogene Proteins genetics, Repressor Proteins genetics, Sarcoma, Clear Cell genetics, Tandem Repeat Sequences genetics
- 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.
- Published
- 2015
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