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Young age triggering genetic testing for hereditary kidney cancer

Commentary from Professor Susanne Osanto

10th April 2014

Although 5% to 8% of renal cell carcinoma (RCC) is hereditary there are no formal guidelines to select patients for RCC germline mutation testing. 

Dr. Schuch et al reported their study of RCC cases in the SEER-17 (Surveillance, Epidemiology and End Results) program and institutional hereditary kidney cancer population in the Journal of Clinical Oncology. The authors evaluated whether age of onset could indicate the need for genetic (germline mutation) testing of inherited forms of kidney cancer. 

Median age of patients with RCC in SEER-17 was 64 years with differences observed by race, sex, and subtype (P < .05). The mean and median ages at presentation of 608 patients with hereditary kidney cancer were 39.3 years and 37 years, respectively. The study shows that early age of onset might be a sign of hereditary RCC and that even in the absence of clinical manifestations and personal/family history. 

In kidney cancer patients, an age of onset of 46 years or younger should trigger genetic counseling/germline mutation testing. This age threshold of 46 years may serve as a useful cutoff for genetic testing guidelines.


Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management

Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, Metwalli AR, Srinivasan R, Linehan WM.

J Clin Oncol. 2014 Feb 10;32(5):431-7