Kidney cancer before age 47 implies hereditary cause

The diagnosis of renal cell cancer in a patient aged 46 or younger should prompt a referral for germline mutation testing and genetic counseling, according to a report published online in the Journal of Clinical Oncology.

"Early" onset is a known clinical factor for hereditary renal cell cancer (RCC), but this study establishes a proposed age threshold for genetic testing. Dr. Brian Shuch and his associates at the National Cancer Institute analyzed 106,224 cases of RCC from the general U.S. population in the SEER-17 (Surveillance, Epidemiology, and End Results–17) database, as well as 608 cases of hereditary RCC in an NCI database. This represents the largest cohort of patients with hereditary RCC studied to date, the researchers noted.

The age of presentation for hereditary forms of RCC was consistently much younger – typically 27 years younger – than that for sporadic RCC. The median age of onset was 37 years and the mean age of onset was 39 years for hereditary RCC, compared with 63 and 64 years, respectively, for sporadic RCC.

The researchers found that using the 10th percentile of the typical age of onset in the general population – age 46 years or younger – made a practical cutoff point that yielded the most sensitive and specific criterion for recommending genetic testing and counseling.

Once a syndrome is identified, specific recommendations can be given regarding nephron-sparing surgery, partial nephrectomy, the timing of interventions, and surveillance of the renal mass, as well as for the screening of relatives, Dr. Shuch and his associates said (J. Clin. Oncol. 2013 Dec. 30 [doi:10.1200/JCO.2013.50.8192]).

The authors reported having no relevant financial disclosures.