Genetic sequence of rare kidney cancer reveals unique alterations involving telomerase

An international scientific collaboration has revealed clues about genetic alterations that may contribute to a rare form of kidney cancer, providing new insights not only into this rare cancer but other types as well.

The collaboration, a project of the National Institutes of Health's Cancer Genome Atlas initiative and led by Baylor College of Medicine in Houston, Texas, completed the sequence of chromophobe renal cell carcinoma and published the results in Cancer Cell (2014; doi:10.1016/j.ccr.2014.07.014).

"The Cancer Genome Atlas is a federally funded national effort that has already completed the sequence of many major types of cancer (breast, lung, ovarian, for example), but this project is now branching out to sequence more rare types of cancer," said lead and corresponding author Chad Creighton, PhD, associate professor of medicine and a biostatistician in the NCI-designated Dan L. Duncan Cancer Center at Baylor. "The idea is that with a better understanding of these more rare types of cancers, we gain new insight that might be relevant to how we study other types of cancer. The findings in this study are a perfect example of that."

Chromophobe renal cell carcinoma is a rare type of kidney cancer, with approximately 2,000 new cases diagnosed each year in the United States. A majority of patients survive the disease.

"Although most patients are reassured when the pathology of their kidney tumor comes back as chromophobe, we all have cared for patients who developed and died from metastatic chromophobe kidney cancers," said co-senior author Kimryn Rathmell, MD, PhD, associate professor of hematology and oncology in the Lineberger Comprehensive Cancer Center at the University of North Carolina at Chapel Hill. "This report is incredibly exciting for physicians who care for these patients because all of the treatment plans we have had to this point have been based on the biology of the more common kidney cancer type, as if chromophobe must be a close relative of that disease."

The project shows with no uncertainty that chromophobe renal cell carcinoma represents a distinct cancer entity, and reveals exciting biology inherent to the disease that we hope in the future will allow new therapies to be developed specifically for the chromophobe type of kidney cancer, Rathmell explained.

The team sequenced 66 tumor samples at Baylor's Human Genome Sequencing Center. Other types of data were collected on these samples and integrated with the sequencing, including gene expression and epigenetic data. In addition to sequencing known genes, DNA from mitochondria and from the entire genome was also sequenced.

The most surprising and significant finding came after the team took an "extra step" with their analysis, Creighton said.

"Instead of just looking specifically at the exome, we also analyzed the entire genome, something not typically done in these genomic studies," said Creighton. The exome, the part of the genome used to make proteins, constitutes only 1% of the total genome, where the other 99% is often ignored in studies.

"However, when you look outside of the genes, there is much more going on," said Creighton. "For example, gene regulatory features of the genome can be altered."

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