肾癌遗传风险人群筛查现状.pdf

1、The State of Screening Individuals with a Hereditary Risk of Kidney CancerMarie Carlo,MDGenitourinary Oncology Medical GeneticsMemorial Sloan Kettering Cancer Center Learning Objectives Distinguish patients to refer genetic risk evaluation of hereditary RCC Evaluate real world evidence of germline t

2、esting for RCC Emerging genetic and clinical associations with RCC39-year-old woman,healthyIncidental renal mass-nephrectomy shows clear cell RCC,T2,grade 2 No family history of RCC Do you offer germline genetic evaluation?Guidelines for Genetic Evaluation NCCN 2025AUA 2021Age 46 46MultifocalityYesY

3、esFamily HistoryRelative RCC Relative RCC or syndromePathologySuggestive of a syndromeSuggestive of a syndromeCampbell et al.Journal of Urology,2021.Motzer et al.NCCN 2025.“should recommend”“consider referral”Young Onset RCCShiels et al.Cancer Discovery,2025.Largest absolute increases:breast(n=4,834

4、 additional cancers)colorectal(n=2,099)kidney(n=1,793)uterine cancers(n=1,209)Young Onset RCCTruong et al.EU Oncology,2021.Young Onset RCCTruong et al.EU Oncology,2021.Guidelines for Genetic Evaluation NCCN 2025AUA 2021Age 46 46MultifocalityYesYesFamily HistoryRelative RCC Relative RCC or syndromePa

5、thologySuggestive of a syndromeSuggestive of a syndromeCampbell et al.Journal of Urology,2021.Motzer et al.NCCN 2025.“should recommend”“consider referral”Guidelines for Genetic Evaluation NCCN 2025AUA 2021Age 46 46MultifocalityYesYesFamily HistoryRelative RCC Relative RCC or syndromePathologySuggest

6、ive of a syndromeSuggestive of a syndromePersonal or family history of mesothelioma/uveal melanomaCampbell et al.Journal of Urology,2021.Motzer et al.NCCN 2025.“should recommend”“consider referral”BAP1 Tumor Predisposition Syndrome Autosomal dominant 85%lifeti