Genetic testing of chromophobe renal cacners – pro
Chromophobe renal cell carcinoma (ChRCC) is a subtype of renal cell carcinoma (RCC). ChRCC is diagnosed mainly in 6th decade of life. There are genetic syndromes in which these cancers tend to occur in addition to sporadic cases.
BHD syndrome is an autosomal dominant disorder that includes: benign skin tumor (skin tags, fibrofolliculomas), renal epithelial neoplasms (ChRCC, oncocytoma) and spontaneous pneumothorax. Renal tumors are often multifocal and bilateral. BHD gene encodes potential tumor suppressor protein – folliculin on 17p11. ChRCCs is characterized by length polymorphism such as loss of chromosomal material involving chromosomes: 1, 2, 3p, 6, 10, 13, 17p, 17q and 21. It may be helpful in distinguishing between clear, papillary and chromophobe subtypes of RCC. Absence of c-kit mutation could be argue for potential effectiveness of imatinib therapy in patients with metastatic.
However, there is no credible medical evidence to suggest that screening with panels of genetic tests is beneficial for this condition, or that it can guide therapy.
Shuch B, Vourganti S, Ricketts CJ, et al.: Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. J Clin Oncol 32 (5): 431-7, 2014
DeVita VT Jr, Lawrence TS, Rosenberg SA: Cancer: Principles and Practice of Oncology. 9th ed. Philadelphia, Pa: Lippincott Williams & Wilkins, 2011.