Key clinical point: Different histologically defined RCC subtypes are characterized by distinctive mutations, chromosomal copy number alterations, and expression patterns of mRNA, miRNA, and lncRNA. Histology plus genomics provide insight into patient-centered management. A tumor or liquid biopsy, provide invaluable information and prognostic biomarkers to guide clinical and surgical management.
Major finding: TP53 mutation correlated with decreased survival in clear cell RCC (p = 0.0002) and papillary RCC (p = 0.0049), while PTEN mutation correlated with decreased survival in chromophobe RCC (p = 0.0138). While BAP1 mutation correlated with decreased survival across the entire cohort (p = 0.0002) and within the clear cell RCC group (p = 0.0035), BAP1 mutation did not correlate with survival in papillary RCC or chromophobe RCC. Similarly, PBRM1 mutation, which has been shown to not correlate with survival in clear cell RCC, was found to correlate with decreased survival in papillary RCC (p = 0.0008) that was specific to type 1 papillary RCC (p < 0.0001).
Study details: 843 RCC from the three major histologic subtypes, including 488 clear cell RCC, 274 papillary RCC, and 81 chromophobe RCC were evaluated.
Disclosures: The authors had no relevant financial disclosures.
Source: Ricketts C et al. Cell Reports April 2018, Pages 313–326.e5 https://doi.org/10.1016/j.celrep.2018.03.075
Ricketts C et al. Cell Reports April 2018, Pages 313–326.e5 https://doi.org/10.1016/j.celrep.2018.03.075
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