Renal cell carcinoma (RCC) is a highly metastatic (easily spreading) cancer. If RCC progresses, it can spread to other organs, such as the lungs. Although RCC is a rare cancer, it is the most common kidney cancer found in adults. There are also rare subtypes of RCC, such as translocation renal cell carcinoma (tRCC). Altogether, tRCC accounts for 1-5% of RCC in adult patients and 20-50% in pediatric patients. However, prior research provided little to no insights into tRCC, its underlying molecular makeup, or even how to best treat this rare cancer.
According to Medical XPress, researchers from the Dana-Farber Brigham Cancer Center recently sought to change this through groundbreaking medical research. The researchers performed an analysis of 152 tRCC samples to determine a greater understanding of this cancer.
If you would like to see the full findings, the researchers published “Integrative clinical and molecular characterization of translocation renal cell carcinoma” in Cell Reports.
New Insights into tRCC
According to the article published in Cell Reports, the authors describe tRCC as:
a poorly characterized subtype of kidney cancer driven by MiT/TFE gene fusions. Prior case series have suggested that tRCC has a demographic profile that is distinct from more common subtypes of kidney cancer, with a younger age at diagnosis, an advanced stage at presentation, and a female predominance.
Researchers used the 152 samples across large-scale databases to determine more about tRCC. In addition to deepening knowledge around this cancer, these insights could be used – in the future – to create more targeted therapeutic options. Currently, for these patients, therapeutic options are limited. Findings from this study include:
- Immunotherapy, such as immune checkpoint inhibitors, could potentially offer a therapeutic option for patients with tRCC.
- Although MiT/TFE gene fusions characterize tRCC, there are few other gene mutations associated with this cancer. TFE3 is the most frequently involved gene.
- One transcriptional hallmark of tRCC was a high response to oxidative stress.
Associated Symptoms and Characteristics
There are a number of symptoms and characteristics associated with renal cell carcinoma as a whole. Patients with translocation renal cell carcinoma may see symptoms manifest in a similar way. Potential symptoms include:
- Flank and/or abdominal pain
- Unintended weight loss
- Hematuria (blood in the urine) or rusty-colored urine
- High blood pressure
- Anemia (low red blood cell count)
- Enlarged testicles or varicose testis vein