08Apr 2022
The genomic landscape of metastatic clear cell renal cell carcinoma after systemic therapy

The genomic landscape of metastatic clear cell renal cell carcinoma after systemic therapy

Molecular analysis of lesions that drive kidney cancer progression has been performed with primary kidney tumours. In this manuscript, the study analyzed genomic alterations present in various metastatic lesions. The study discovered two genes and chromosomal locations that are frequently altered, particularly in metastatic lesions, and a pattern of alterations that might be associated with poor prognosis. The study performed whole-exome sequencing (WES) in 68 samples from 44 patients with ccRCC, including 52 samples from a metastatic site. SETD2, PBRM1, APC and VHL were the most frequently mutated genes in the metastatic ccRCC cohort. No statistically significant differences were found between samples from therapy‐naïve and pretreated patients. Clonal evolution analyses with multiple samples from 13 patients suggested that the early appearance of CNVs at 3p25, 9p21 and 14q25 may be associated with rapid clinical progression. Overall, the genomic landscapes of primary and metastatic ccRCC seem to share frequent CNVs at 3p25, 9p21 and 14q25. Future work will clarify the implication of RBM10 and FBXW7 mutations and 6p21 and 13q14 CNVs in metastatic ccRCC.

  • #oncology

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