Genetic Profiling of Advanced Papillary Renal Cell Carcinoma
Comprehensive genomic profiling of patients with advanced papillary renal cell carcinoma revealed key distinctions from The Cancer Genome Atlas (TCGA), according to research presented by Sumanta K. Pal, MD, of the City of Hope, at the 2017 American Society of Clinical Oncology (ASCO) Annual Meeting (Abstract 4517).
To investigate gene alterations, the researchers obtained formalin-fixed paraffin-embedded tissue from 169 patients with advanced papillary renal cell carcinoma. A total of 39 of these patients had type 1 disease, 108 had type 2 disease, and 22 were unclassified.
Analysis revealed an average of 2.4 gene alterations per tumor. Alterations in the MET gene were significantly associated with type 1 papillary renal cell carcinoma, whereas alterations in NF2 and SWI/SNF complex genes were significantly associated with type 2 disease. Notably different from the TCGA data were higher frequencies of alterations in MET and NF2, the association of alterations in SWI/SNF complex genes with type 2 disease, and frequent CKDN2A/B alterations in both type 1 and type 2 disease, revealed the investigators.
Dr. Pal and colleagues concluded: “These results likely underscore the marked difference in stage distribution between data sets. Results of this study may inform trials of relevant targeted therapy in metastatic papillary renal cell carcinoma.”