Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.
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冯·希佩尔-林道病患者受影响后代的临床特征和生存危险因素
DOI：
10.1136/jmedgenet-2021-108216
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发表时间：
2022-10
影响因子：
4
通讯作者：
中科院分区：
文献类型：
--
作者：
Von Hippel-Lindau （VHL）病是一种常染色体显性遗传肿瘤综合征，预后不良。VHL患者患病后代临床表现更为严重，但其危险因素及生存情况未见报道。我们的目的是探讨这些患者如何受到遗传和临床因素的影响。在这项回顾性研究中，我们从118个无亲缘关系的VHL家族中收集了372名VHL患者的患病后代。根据一系列变量将患者分为不同的组。采用Kaplan-Meier生存分析和Cox回归分析，分析各组年龄相关风险、总生存率和中枢神经系统成血管细胞瘤（CHB）特异性生存率。VHL患者患病后代的中位预期寿命和中位发病年龄分别为66岁和28岁。下一代和外显子3突变的患者发病年龄较早。首次出现的症状是影响总生存率和chb特异性生存率的唯一独立危险因素。以中枢神经系统（CNS）为首发症状的患者在总生存期和chb特异性生存分析中预期寿命均明显低于腹部病变组。本研究表明，以中枢神经系统为首发症状的VHL患者的受影响后代是影响总生存率和chb特异性生存率的独立危险因素。发生和突变区域仅对发病年龄有影响，有助于临床决策和制定更精确的监测方案。
Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic tumour syndrome with poor prognosis. The clinical manifestation was found to be more serious in affected offspring of patients with VHL disease, but the risk factors and survival for them have never been reported before. We aimed to explore how these patients were influenced by genetic and clinical factors. In this retrospective study, we collected 372 affected offspring of VHL patients from 118 unrelated VHL families. Patients were stratified into different groups based on sets of variables. The age-related risk, overall survival and central nervous systemhaemangioblastoma (CHB)-specific survival were analysed between different groups using Kaplan-Meier survival analysis and Cox regression analysis. The estimated median life expectancy and median age of onset for affected offspring of VHL patients were 66 years and 28 years, respectively. The later generation and patients with mutations in exon 3 had an earlier onset age. The first presenting symptom was the only independent risk factor influencing overall survival and CHB-specific survival. Patients that the first presenting symptom is central nervous system (CNS) significantly had a lower life expectancy both in overall survival and CHB-specific survival analysis than abdominal lesions group. This study indicated that affected offspring of VHL patients with CNS as the first presenting symptom was an independent risk factor for overall survival and CHB-specific survival. Generation and mutation region only had an effect on the onset age, which is helpful to clinical decision-making and generate a more precise surveillance protocol.
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端粒长度较短会增加冯·希佩尔-林道病患者与年龄相关的肿瘤风险
影响因子：
4
作者：
Wang JY;Peng SH;Ning XH;Li T;Liu SJ;Liu JY;Hong BA;Qi NN;Peng X;Zhou BW;Zhang JF;Cai L;Gong K
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DOI：
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期刊：
Science (New York, N.Y.)
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影响因子：
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DOI：
10.1016/j.beem.2010.01.002
发表时间：
2010-06-01
影响因子：
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作者：
Barontini, Marta;Dahia, Patricia L. M.
通讯作者：
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