Analysis of microRNA expression profiles in Xp11 renal cell carcinoma compared to normal adjacent tissue.. Homo sapiens

Renal cell carcinomas (RCCs) with Xp11 translocation (Xp11 RCC) constitute a distinctive molecular subtype characterized by chromosomal translocations involving the Xp11.2 locus, resulting in gene fusions between the TFE3 transcription factor with a second gene (usually ASPSCR1, PRCC, NONO, or SFPQ). RCCs with Xp11 translocations comprise up to 1-4% of adult cases, frequently displaying papillary architecture with epithelioid clear cells. Overall design: We analyze the miRNA expression profiles of Xp11 RCC compared to matched normal renal parenchyma using microarray. We further compare Xp11 RCC with other RCC histologic subtypes using publically available datasets, identifying common and distinctive microRNA signatures along with the associated signaling pathways and biological processes. Overall, Xp11 RCC more closely resemble clear cell rather than papillary RCC. Furthermore, among the most differentially expressed miRNAs specific for Xp11 RCC, we identify miR-148a-3p, miR-221-3p, miR-185-5p, miR-196b-5p, and miR-642a-5p to be up-regulated, while miR-133b and miR-658 were down-regulated. Finally, Xp11 RCC is most strongly associated with microRNA expression profiles modulating DNA damage responses, cell cycle progression and apoptosis, and the Hedgehog signaling pathway