Abstract Background The overall natural history, risk of death and surgical burden of patients with multiple endocrine neoplasia type 1 (MEN1) is not well known. Methods Patients with MEN1 from a nationwide cohort were included. The survival of patients with MEN1 was compared with that of the general population using simulated controls. The cumulative probabilities of MEN1-specific operations and postoperative mortality were assessed, and surgical sequences were analysed using sunburst charts and Venn diagrams. Results A total of 1386 patients with MEN1 were included. Life expectancy was significantly reduced in patients with MEN1 compared with simulated controls from the general population, with a lifetime difference of 15 years. Mutations affecting the JunD interaction domain had a significant negative impact on survival. Survival for patients with MEN1 compared with the general population improved over time. The probability of experiencing at least one specific MEN1 operation was above 95 per cent after 75 years, and most patients had surgery at least twice during their lifetime. Time to a 50 per cent risk of MEN1 surgery was 30.5 years for patients born after 1960, compared with 47.9 years for those born before 1960. Sex and mutations affecting the JunD interacting domain had no impact on time to first surgery. There was considerable heterogeneity in surgical sequences, with no specific clinical pathway. Conclusion Life expectancy was significantly lower among patients with MEN1 compared with the general population, and further decreased in patients with mutations affecting the JunD interacting domain. Almost all patients underwent at least one MEN1-specific operation during their lifetime, but there was no standardized sequence of surgery.

中文翻译：

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1 型多发性内分泌肿瘤的预期寿命和手术可能性：AFCE 和 GTE 队列研究

摘要 背景1 型多发性内分泌肿瘤 (MEN1) 患者的总体自然史、死亡风险和手术负担尚不清楚。 方法来自全国队列的 MEN1 患者被纳入其中。使用模拟对照将 MEN1 患者的生存率与一般人群的生存率进行比较。评估了 MEN1 特异性手术的累积概率和术后死亡率，并使用旭日图和维恩图分析手术顺序。 结果总共纳入了 1386 名 MEN1 患者。与一般人群的模拟对照相比，MEN1 患者的预期寿命显着缩短，寿命差异为 15 年。影响 JunD 相互作用域的突变对生存具有显着的负面影响。随着时间的推移，MEN1 患者的生存率与普通人群相比有所改善。 75 年后经历至少一次特定 MEN1 手术的概率高于 95%，大多数患者一生中至少接受过两次手术。对于 1960 年之后出生的患者，MEN1 手术风险达到 50% 的时间为 30.5 年，而 1960 年之前出生的患者为 47.9 年。性别和影响 JunD 相互作用结构域的突变对首次手术的时间没有影响。手术顺序存在相当大的异质性，没有特定的临床路径。 结论与一般人群相比，MEN1 患者的预期寿命显着降低，并且影响 JunD 相互作用结构域的突变的患者的预期寿命进一步缩短。几乎所有患者一生中至少接受过一次 MEN1 特异性手术，但没有标准化的手术顺序。