Clinicopathologic Features of a Series of Primary Renal CIC-rearranged Sarcomas With Comprehensive Molecular Analysis.

摘要: CIC-rearranged sarcomas rarely occur in visceral organs including the kidney. The most common fusion partner with CIC is DUX4 gene, but variant partners have also been reported. Herein, we describe clinicopathologic features and comprehensive molecular profiling of 4 cases primary renal sarcomas. All occurred females, age range 13 to 82 years included 3 resections 1 needle biopsy specimen. There was a tendency for development metastatic disease predominantly lungs poor outcome despite different treatment strategies. Histologically, variable round cell (20% 100%), spindle (0% 80%), rhabdoid morphologies 20%) were seen. By immunohistochemistry diffuse WT1 nuclear (2 3+, ∼90%) labeling present case, cytoplasmic staining others (3+, 40% 75%). CD99 focally positive all (≤10%); case each diffusely c-myc ETV4 ∼90%); (2+, ∼5%) calretinin ∼5%); negative cytokeratin NKX2.2. rearrangement by fluorescence situ hybridization tested. Comprehensive genomic (CGP) revealed CIC-DUX4 2 cases, CIC-NUTM1 fusion. had low mutation burden, except HLA-A MLL mutations lacked alterations other oncogenic drivers. Material from insufficient CGP that immunohistochemical stain as tumors. In conclusion, kidney this series illustrate an example fusion, emerging variant, at site. Testing or optimal avoid missing harbor partners.