Natural history of renal tumours in von Hippel-Lindau disease: a large retrospective study of Chinese patients
Natural history of renal tumours in von Hippel-Lindau disease: a large retrospective study of Chinese patients
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von Hippel-Lindau 病肾肿瘤的自然史：针对中国患者的大型回顾性研究
DOI：
10.1136/jmedgenet-2018-105567
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发表时间：
2019-06-01
影响因子：
4
通讯作者：
Gong, Kan
中科院分区：
文献类型：
--
作者：
Peng, Xiang;Chen, Jinchao;Gong, Kan
肾细胞癌（renal cell carcinoma，RCC）是von Hippel-Lindau（VHL）病的主要死亡原因之一。然而，VHL相关RCC的自然史至今尚未完全阐明。本报告描述了一个中国VHL队列中VHL相关RCC的自然史，可能有助于VHL疾病的监测和治疗。方法回顾性分析150例VHL患者的196个肾肿瘤。采用统计学分析来评估发病年龄、性别、家族史、单侧或双侧肿瘤、VHL疾病类型、突变类型、突变位置和肿瘤大小对VHL疾病患者肿瘤生长、转移和生存的影响。结果平均发病年龄38.8岁，肿瘤平均大小3.1cm。平均线性增长率为0.49 cm/年。当患者发病年龄较晚、初始肿瘤大小较大、错义突变、位于外显子3的突变以及未受脑或视网膜血管母细胞瘤影响时，患者的肿瘤生长更快。大于4cm的肿瘤生长速度快于小于4cm的肿瘤。双侧肿瘤、初始肿瘤大、肿瘤生长快和转移是VHL相关RCC预后不良的危险因素。结论本大型研究表明，发病年龄、初始肿瘤大小、合并肿瘤、突变类型和突变位置对VHL相关RCC的生长速度有影响。对于肿瘤大小小于4 cm的患者，主动监测可能是安全的，这有助于临床决策。
Background Historically, renal cell carcinoma (RCC) is one of the main causes of death in von Hippel-Lindau (VHL) disease. However, the natural history of VHL-related RCC has not been thoroughly elucidated to date. This report described the natural history of VHL-related RCC in a large Chinese VHL cohort and might be helpful in the surveillance and treatment of VHL disease. Methods In this retrospective study, we included 196 renal tumours from 150 patients with VHL disease. Statistical analysis was used to evaluate the influence of age of onset, sex, family history, unilateral or bilateral tumour, VHL disease type, mutation type, mutation location, and tumour size on tumour growth, metastasis and survival in patients with VHL disease. Results The mean age of onset was 38.8 years, and the mean initial tumour size was 3.1 cm. The mean linear growth rate was 0.49 cm/year. Patients experienced faster tumour growth when they had later age of onset, larger initial tumour size, missense mutation, mutations locating in exon 3, and when they were not affected by cerebral or retinal haemangioblastomas. Tumours larger than 4 cm grew faster than those smaller than 4 cm. Bilateral tumours, large initial tumours, fast tumour growth and metastasis were risk factors for poor prognosis in VHL-related RCC. Conclusion This large study demonstrated that age of onset, initial tumour size, concomitant tumours, mutation type and mutation location had an effect on growth rate in VHL-related RCC. Active surveillance may be safe for patients with tumour size less than 4 cm, which is helpful in clinical decision-making.