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Germline Mutations in Early-Onset Renal Cell Carcinoma

By: Vanessa A. Carter, BS
Posted: Friday, January 22, 2021

Based on the findings of a study featured in the Best of Kidney Cancer session during the 2020 Annual Meeting of the Society of Urologic Oncology (SUO), broad testing of patients with early-onset renal cell carcinoma, particularly those with non–clear cell disease, may be warranted. Hong Truong, MD, of Memorial Sloan Kettering Cancer Center, New York, and colleagues conducted a study to evaluate the pathologic and clinical factors correlated with the presence of germline mutation in patients with early-onset renal cell carcinoma.

“Most patients with non–clear cell renal cell carcinoma had no family history or other syndromic features, [whereas] all patients with clear cell renal cell carcinoma had syndromic features,” the investigators noted.

The researchers focused on 233 patients (aged 46 or younger) with renal cell carcinoma who agreed to germline sequencing. The targeted panel included the analysis of more than 76 cancer-associated genes, either through a visit to a genetics clinic (n = 68) or an institutional protocol of matched tumor-germline sequencing (n = 165).

The mean age of participants was 38 years old, and 17% of patients had a family history of renal cell carcinoma. Mutations in renal cell carcinoma–associated genes such as FH, VHL, SDHB, BAP1, TSC1, and FLCN were identified in 9% of patients, and germline mutations were found in 19%. Mutations of moderate to high penetrance of non–renal cell carcinoma genes such as BRCA1, ATM, CHEK2, TP53, PALB2, and RET were observed in 5% of participants.

Syndromic features and a family history of renal cell carcinoma were identified in 52% and 29% of patients respectively; 43% had neither. A total of 100% of patients with clear cell renal cell carcinoma and 43.8% of those with non–clear cell renal carcinoma had syndromic features or family history, and 77.8% of patients with non–renal cell carcinoma genes met the standard testing criteria for those genes.

Disclosure: The study authors reported no conflicts of interest.



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