Department of General, Visceral, and Endocrine Surgery, Pitié Salpêtrière Hospital, AP-HP, Paris, France.
Department of Hepato-Biliary and Pancreatic Surgery and Liver Transplantation, AP-HP Pitié-Salpêtrière Hospital, Paris, France.
Br J Surg. 2022 Aug 16;109(9):872-879. doi: 10.1093/bjs/znac006.
The overall natural history, risk of death and surgical burden of patients with multiple endocrine neoplasia type 1 (MEN1) is not well known.
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.
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.
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.
多发性内分泌腺瘤病 1 型（MEN1）患者的整体自然病史、死亡风险和手术负担尚不清楚。
纳入来自全国性队列的 MEN1 患者。使用模拟对照比较 MEN1 患者的生存情况。评估 MEN1 特异性手术和术后死亡率的累积概率，并使用旭日图和韦恩图分析手术顺序。
共纳入 1386 例 MEN1 患者。与普通人群中的模拟对照相比，MEN1 患者的预期寿命明显缩短，终生相差 15 年。影响 JunD 相互作用域的突变对生存有显著的负面影响。与普通人群相比，MEN1 患者的生存状况随着时间的推移而改善。在 75 岁以后，经历至少一次特定的 MEN1 手术的概率超过 95%，大多数患者在其一生中至少进行过两次手术。对于出生于 1960 年后的患者，发生 50%MEN1 手术风险的时间为 30.5 年，而出生于 1960 年前的患者为 47.9 年。性别和影响 JunD 相互作用域的突变对首次手术时间没有影响。手术顺序存在相当大的异质性，没有特定的临床路径。
与普通人群相比，MEN1 患者的预期寿命明显较低，而影响 JunD 相互作用域的突变患者的预期寿命进一步降低。几乎所有患者在其一生中都至少进行过一次 MEN1 特异性手术，但没有标准化的手术顺序。
