Translocation renal cell carcinoma (tRCC) is a rare and aggressive form of kidney cancer. It accounts for about 5 percent of all renal cell carcinomas in adults and about 50 percent in children. Relatively little is known about this cancer subtype, including its molecular underpinnings and the best course of clinical treatment.

In a new comprehensive, multicenter study of 152 samples, investigators illuminate the disease’s molecular landscape and clinical features, finding that genetic alterations are rare in tRCC, except for the MiT/TFE fusions and 9p21.3 deletions. 

The authors find that tRCC harbors few recurrent genomic alterations, is characterized by NRF2 activation, and is resistant to targeted therapies but may show responses to immunotherapy.

Their work further suggests that tRCCs may be responsive to treatment with immune checkpoint inhibitors. ‘

“We think our findings regarding the potential of immunotherapy combinations could be immediately clinically actionable,” said lead author. “Because this cancer is so rare, it is difficult to have clinical trials dedicated to it. Comprehensively studying its molecular and clinical features may help us develop a better roadmap for treatment.”

https://www.cell.com/cell-reports/fulltext/S2211-1247(21)01691-0

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