General Surgery Service, Endocrine Surgery Unit, Instituto Murciano de Investigaciones Biomédicas (IMIB), Virgen de la Arrixaca University Hospital, Murcia, CP 30120, Spain.
General Surgery Service, Endocrine Surgery Unit, Instituto Murciano de Investigaciones Biomédicas (IMIB), Virgen de la Arrixaca University Hospital, Murcia, CP 30120, Spain.
Eur J Surg Oncol. 2019 Apr;45(4):625-630. doi: 10.1016/j.ejso.2018.09.002. Epub 2018 Oct 17.
Medullary thyroid carcinoma (MTC) is the main cause of death in multiple endocrine neoplasia 2A (MEN2A) patients. It is therefore important to treat this disease at an early stage. The mutation in codon 634 is considered to be associated with an aggressive clinical course, whereas the C634Y mutation may result in a more indolent course. Prophylactic thyroidectomy is performed before thyroid disease occurs. However, controversy surrounds this disease regarding levels of calcitonin (Ct) and age. In this context, few studies have investigated this mutation over a long period.
To analyze a large cohort of patients with the C634Y mutation who received prophylactic thyroidectomy.
In a group of 110 MEN2 patients, we analyzed those with the C634Y mutation who had received prophylactic thyroidectomy (absence of clinical and radiological thyroid disease) treated in a tertiary referral hospital between 1983 and 2016. MTC is related to age and Ct. Statistical analysis was performed using the χ test, partial correlations, and logistic regression.
Fifty patients with a mean age of 12 ± 9 years were analyzed; 56% of these had MTC (100% stage I). There was no case of hypoparathyroidism or permanent recurrent damage. MTC was associated mainly with age (OR 1.38). One 5-year-old patient presented with MTC. Mean follow-up time was 16 ± 6 years, and no cases of recurrence were observed.
Performing prophylactic thyroidectomy in patients with the C634Y mutation allows us to cure the disease without causing long-term complications. Our results support the notion that age <5 years should be a criterion for carrying out prophylactic thyroidectomy in these patients.
甲状腺髓样癌（MTC）是多发性内分泌肿瘤 2A（MEN2A）患者死亡的主要原因。因此，早期治疗这种疾病非常重要。密码子 634 的突变被认为与侵袭性临床病程相关，而 C634Y 突变可能导致更惰性的病程。预防性甲状腺切除术在甲状腺疾病发生之前进行。然而，关于降钙素（Ct）和年龄水平，对此病存在争议。在这种情况下，很少有研究在很长一段时间内对这种突变进行了调查。
分析接受预防性甲状腺切除术的 C634Y 突变大型患者队列。
在一组 110 名 MEN2 患者中，我们分析了在三级转诊医院于 1983 年至 2016 年间接受预防性甲状腺切除术（无临床和放射学甲状腺疾病）的 C634Y 突变患者。MTC 与年龄和 Ct 有关。使用 χ 检验、偏相关和逻辑回归进行统计分析。
分析了 50 名平均年龄为 12±9 岁的患者；其中 56%患有 MTC（100%为 I 期）。没有发生甲状旁腺功能减退症或永久性复发损伤。MTC 主要与年龄相关（OR 1.38）。一名 5 岁患者患有 MTC。平均随访时间为 16±6 年，未观察到复发病例。
对 C634Y 突变患者进行预防性甲状腺切除术可以治愈疾病，而不会引起长期并发症。我们的结果支持这样的观点，即年龄<5 岁应该是对这些患者进行预防性甲状腺切除术的标准。
