From copy number alterations to structural variants: the evolutionary cascade of papillary renal cell carcinomas
作者： Stephen Chanock , Steno Sentinelli , Boian S. Alexandrov , Vito Michele Fazio , Maria Luana Poeta
DOI: 10.1101/478156
关键词:
摘要: Intratumor heterogeneity (ITH) and tumor evolution have been described for clear cell renal carcinomas (ccRCC), but only limited data are available other kidney cancer subtypes. Moreover, previous ITH studies predominately focused on single nucleotide variants (SNVs); little is known of the stepwise process in which additional genomic alterations such as copy number (SCNAs) or structural (SV) acquired. We investigated clonal papillary carcinoma (pRCC) rarer subtypes using whole-genome sequencing multi-omics analyses 124 samples from 29 subjects. collected multiple center to periphery matched metastatic lesions capture changes occurring along physical expansion. used phylogenetic analysis order impact SCNAs, SNVs, SVs evolutionary trajectory these tumors. While few mutations driver genes were clonal, pRCC was lowest intermediate highest SVs. The confirmed a expansion cascade alteration types. while SNVs SCNAs similar, >20 times more frequent type 2 than 1, suggesting role aggressive behavior. Unlike ccRCC types, pRCCs tumorigenesis appears begin and/or rare genes. No effective treatment this tumor. Our work highlights need tailored intervention against large-scale somatic beyond SNVs.
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