|Sample Collection Complete||Data Publicly Available|
What is chromophobe kidney cancer?
Chromophobe renal cell carcinoma is a rare type of kidney cancer. This type of cancer forms in the cells lining the small tubules in the kidney. These small tubules help filter waste from the blood, making urine. All types of kidney cancer are different, making it even more important to characterize each one.1 In 2012, it is estimated that there will be 64,770 new cases of kidney cancer and 13,570 deaths as a result of this disease.2 Chromophobe kidney cancer accounts for five percent of these cancer cases. This rare type of cancer can run in families as part of a rare genetic disorder called Birt-Hogg-Dubé syndrome.3 The disorder’s genetic nature has allowed researchers a small window of opportunity to study it; however, very little is known about the genetic basis of sporadic (non-hereditary) chromophobe kidney cancer. The Cancer Genome Atlas (TCGA) is studying the sporadic cases of this type of kidney cancer. Although this cancer subtype is rare, it is still a serious disease. The only treatment option for patients with chromophobe kidney cancer is surgery.4
Because of the rare nature of chromophobe kidney cancer, TCGA expects to collect a small number of samples: approximately 60. This project was first in a series of rare tumor characterization efforts.
What have TCGA researchers learned about chromophobe kidney cancer?
TCGA researchers have:
- Observed molecular differences that distinguish chromophobe renal cell carcinoma from the most common kidney cancer, clear cell renal cell carcinoma, suggesting that these cancers should be treated as clinically distinct diseases
- Chromophobe renal cell carcinoma demonstrated a low rate of somatic mutation compared to most tumors, specifically three times lower than the mutation rate of clear cell renal cell carcinoma
- Gene expression data suggest that chromophobe renal cell carcinoma originates from distal regions of the kidney while clear cell renal cell carcinoma arises in the proximal tissue of the kidney
- Some metabolic pathways related to energy production in mitochondria were enriched in chromophobe renal cell carcinoma, while these same pathways were suppressed in clear cell renal cell carcinoma
- Pinpointed two established cancer-driving genes that were frequently mutated in chromophobe renal cell carcinoma, TP53 and PTEN
- Both TP53 and PTEN are tumor suppressor genes that normally regulate cell growth and apoptosis (programmed cell death)
- Identified structural rearrangements of the TERT gene promoter, a regulatory area for the chromosome elongation enzyme telomerase, as potential cancer driving events
- Deregulation of telomerase can make cancer cells immortal by allowing them to continuously divide without depleting the protective caps of chromosomes, called telomeres
Where can I find more information about the TCGA Research Network’s studies or studies using TCGA data?
View a list of TCGA scientific publications.
Where can I find clinical trials to treat chromophobe kidney cancer that are supported by the National Cancer Institute (NCI)?
View a list of NCI-supported kidney cancer clinical trials that are now accepting patients.
1 Linehan, W.M. and Ricketts, C.J. (2012) The metabolic basis of kidney cancer. Semin Cancer Biol. http://dx.doi.org/10.1016/j.semcancer.2012.06.002
2 American Cancer Society: Cancer Facts and Figures 2012. Atlanta, Ga: American Cancer Society, 2012.
3 U.S. National Library of Medicine. (2012) Birt-Hogg-Dubé syndrome. Genomics Home Reference. Retrieved from http://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome
4 Stec, R., Grala, B., Mączewski, M., Lubomir, B. and Szczylik, C. (2009) Chromophobe renal cell cancer – review of the literature and potential methods of treating metastatic disease. J Exp Clin Cancer Res. 28(134): doi: 10.1186/1756-9966-28-134