Clear Cell Sarcoma of Kidney : Molecular Genetics
Section Editor: Dharam M. Ramnani, MD
Virginia Urology, Richmond, VA, USA
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Molecular Genetics of Clear Cell Sarcoma of Kidney (CCSK):
- 85% of CCSKs show somatic, in-frame internal tandem duplications (ITD) in the X-linked BCOR gene located at Xp11.4
- 10% show recurrent balanced translocation t(10;17)(q22;p13) causing in-frame fusion of exons 1 to 5 of YWHAE and exons 2 to 7 of NUTM2 (either NUTM2B or NUTM2E)
- 5% of cases show neither genetic event, but instead may have diverse molecular findings, including BCOR-CCNB3 gene fusion, IRX2-TERT gene fusion, or EGFR gene amplification
- The first two genetic events (BCOR ITD and YWHAE-NUTM2 fusion) are mutually exclusive
- There is no difference in the disease phenotype between CCSK with BCOR ITD and those with the YWHAE-NUTM2 gene fusion