Hereditary kidney tumor syndromes: structured evaluation of a questionnaire-based approach.

Structured risk assessment tool (hRCC score) for identifying patients at risk of hereditary renal cell carcinoma

This study prospectively validates a structured questionnaire-based risk assessment tool (hRCC score) for identifying patients at risk of hereditary renal cell carcinoma. Up to 8% of renal tumors have a monogenic cause (VHL, TSC, Birt-Hogg-Dubé, HLRCC), yet these syndromes remain underdiagnosed. The tool is validated on a prospective cohort to systematize oncogenetics referral from initial urological workup.

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A prospectively validated simple triage tool for hereditary renal tumors addresses a real need: urologists do not systematically consider genetic origin of renal carcinoma outside obvious bilateral or familial forms. The hRCC score could integrate easily into urology consultations.

Clinical impact: 3/3 · Evidence strength: 2/3 · Novelty: 0/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 6/10