Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma

Abstract TFE3 -translocation renal cell carcinoma ( -tRCC) is a rare and heterogeneous subtype of kidney cancer with no standard treatment for advanced disease. We describe comprehensive molecular characteristics 63 untreated primary -tRCCs based on whole-exome RNA sequencing. -tRCC highly heterogeneous, both clinicopathologically genotypically. ASPSCR1-TFE3 fusion several somatic copy number alterations, including the loss 22q, are associated aggressive features poor outcomes. Apart from tumors MED15-TFE3 fusion, most exhibit low PD-L1 expression T-cell infiltration. Unsupervised transcriptomic analysis reveals five clusters distinct angiogenesis, stroma, proliferation KRAS down signatures, which show association patterns prognosis. In line nature, high angiogenesis/stroma/proliferation cluster exclusively consists fusion. Here, we genomic provide insights into precision medicine this