Clear cell sarcoma of kidney (CCSK) is a rare renal malignancy, previously unreported in horseshoe kidney (HSK). B-cell lymphoma 6 corepressor (BCOR) gene internal tandem duplication (ITD) was identified as a recurrent somatic alteration in approximately 85% of CCSKs. This and the YWHAE-NUTM2B/E fusion, the second most common recurrent molecular alteration in CCSK (10%), are considered to be mutually exclusive. However, there is a subset of CCSKs that do not harbor either the BCOR-ITD or YWHAE-NUTM2 translocation and lack known molecular alterations. Herein, we report the first case of CCSK arising in HSK and harboring epidermal growth factor receptor ITD.
Pediatric blood & cancer. 2017 Apr 25 [Epub ahead of print]
Teresa Santiago, Michael R Clay, Elizabeth Azzato, Scott Newman, Israel Fernandez-Pineda, Kim E Nichols, Jinghui Zhang, James R Downing, Andrew Davidoff, Rachel C Brennan, David W Ellison
Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee., Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee., Department of Surgery, St. Jude Children's Research Hospital, Memphis, Tennessee., Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.