通过对多发性内分泌肿瘤 2 型 (MEN2) 家族患者进行降钙素 (Ctn) 水平升高和 RET 基因突变筛查，然后进行预防性甲状腺切除术，可以显着提高遗传性甲状腺髓样癌 (MTC) 患者的治愈率。 RET 基因突变的人。在这项长期观察性研究中，我们调查了术后治愈是否确实能在手术后维持数十年。从 1979 年到 2021 年，对 277 名接受甲状腺切除术的 MEN2 患者进行了术后观察 14.4 ± 10.3 年（平均值，标准差）。根据最后测量的血清 Ctn 水平，将其分为治愈或未治愈（治愈，Ctn < 10 pg/mL 或 < 2 pg/mL；未治愈，Ctn ≥ 10 pg/mL）。根据 RET 突变状态，他们被分为中度、高或最高风险（分别为 121、130 和 26 名患者）。154 名患者 (55.6%) 获得了长期治愈 (Ctn <10 pg/mL) 。中度、高度和最高风险患者的手术中位年龄分别为 27 岁、14 岁和 4 岁。所有 52 名在 6 岁、9 岁或 6 个月前接受预防性甲状腺切除术的患者的 Ctn 水平均低于 2 pg/mL，并在随访期结束时治愈。在多变量分析中，长期治愈的预后因素是较低的肿瘤分期，并且按趋势分类属于中等风险组而不是最高风险组。在通过家庭筛查早期诊断出 MEN2 的患者中，考虑到RET突变风险组的预防性甲状腺切除术可以实现MTC的长期治愈，且血清Ctn水平不可检测。

The cure rate of patients with hereditary medullary thyroid carcionoma (MTC) can be decisively improved by screening for elevated calcitonin (Ctn) levels and RET gene mutations in patients from families affected by multiple endocrine neoplasia type 2 (MEN2), followed by prophylactic thyroidectomy in persons with mutated RET genes. In this long-term observational study, we investigated whether postoperative cures are indeed maintained decades after the procedure.From 1979 to 2021, 277 patients with MEN2 who underwent thyroidectomy were observed postoperatively for 14.4 ± 10.3 years (mean, standard deviation). They were classified as either cured or not cured depending on the last measured serum Ctn level (cured, Ctn < 10 pg/mL or < 2 pg/mL; not cured, Ctn ≥ 10 pg/mL). Depending on their RET mutation status, they were categorized as moderate, high, or highest risk (121, 130, and 26 patients, respectively).154 patients (55.6%) obtained a long-term cure (Ctn <10 pg/mL). The median age at surgery was 27, 14, and 4 years in patients at moderate, high, and highest risk. All 52 patients who had undergone prophylactic thyroidectomy before the age of 6 years, 9 years, or 6 months had a Ctn level below 2 pg/mL and were cured at the end of the follow-up period. In a multivariable analysis, prognostic factors for a long-term cure were a lower tumor stage and, by tendency, classification as belonging to the moderate as opposed to the highest-risk group.In patients receiving an early diagnosis of MEN2 via family screening, prophylactic thyroidectomy taking into account the RET mutation risk group can achieve a long-term cure of MTC with undetectable serum Ctn levels.