医学
冯希佩尔-林道病
疾病
肾细胞癌
临床试验
肾透明细胞癌
预测(人工智能)
肿瘤科
内科学
肾癌
肾脏疾病
生物信息学
重症监护医学
计算机科学
生物
人工智能
作者
Alessandro Larcher,Isaline Rowe,Federico Belladelli,Giuseppe Fallara,Daniele Raggi,Andrea Necchi,Francesco Montorsi,Umberto Capitanio,Andrea Salonia,Osr Vhl Program
出处
期刊:Current Opinion in Urology
[Ovid Technologies (Wolters Kluwer)]
日期:2021-11-15
卷期号:32 (1): 31-39
被引量:3
标识
DOI:10.1097/mou.0000000000000950
摘要
Purpose of review While the molecular and genetic bases of Von Hippel–Lindau (VHL) disease have been extensively investigated, limited evidence is available to guide diagnosis, local or systemic therapy, and follow-up. The aim of the current review is to summarize the ongoing trials both in preclinical and clinical setting regarding VHL disease management. Recent findings Although genotype/phenotype correlations have been described, there is considerable inter and intra-familiar heterogeneity in VHL disease. Genetic anticipation has been reported in VHL disease. From a clinical point of view, expert-opinion-based protocols suggest testing those patients with any blood relative of an individual diagnosed with VHL disease, those with at least 1 or more suggestive neoplasms or patients presenting with clear cell renal cell carcinoma (ccRCC) diagnosed at a less than 40 years old, and/or multiple ccRCC. Clinical research is focused on safety and efficacy of systemic agents for patients with VHL-related ccRCC, with the aim to possibly preserve kidney function and improve patient survival. Summary To date, preclinical and clinical research on the topic is scarce and clinical guidelines are not supported by strong validation studies.
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