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Should All Patients With Early-Onset Kidney Cancer Undergo Comprehensive Genetic Risk Assessment?

By: Julia Fiederlein
Posted: Tuesday, January 11, 2022

According to Maria I. Carlo, MD, of Memorial Sloan Kettering Cancer Center, New York, and colleagues, there are limited data regarding the spectrum of germline mutations and clinical associations in patients with early-onset renal cell carcinoma (RCC). The results of a retrospective analysis, which were published in the journal European Urology Oncology, revealed that germline pathogenic or likely pathogenic variants are reported at high frequencies in this population.

“We found a high prevalence of mutations in genes that increase the risk of cancer in both kidneys and other organs for patients and their at-risk family members,” the investigators commented. “The high frequency of germline mutations in patients with early-onset RCC supports both the NCCN and American Urological Association [AUA] guideline recommendations regarding genetic counseling for patients with early-onset RCC.”

The investigators focused on 232 patients who underwent germline testing between February 2003 and June 2020. Of this population, 50% had non–clear cell histology; this group included patients with unclassified (12.1%), chromophobe (9.7%), fumarate hydratase–deficient (7%), papillary (6.6%), and translocation-associated (4.3%) RCC. Metastatic disease was reported in 43.5% of patients. A total of 17.7% of the study population was found to harbor germline pathogenic or likely pathogenic variants; a total of 9.1% were in an RCC-associated gene and 8.6% were in a non–RCC-associated gene. DNA damage repair genes, such as BRCA1/2, ATM, and CHEK2, were mutated in 7.3% of patients.

Bilateral or multifocal renal tumors, non–clear cell histology, and additional extrarenal primary malignancies seemed to be associated with the presence of pathogenic or likely pathogenic variants in RCC. The incidence rates of pathogenic or likely pathogenic variants in RCC-associated and non–RCC-associated genes were 0% and 9.9%, respectively, in patients with a solitary clear cell RCC.

Disclosure: The study authors reported no conflicts of interest.



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