Bussières Virginie, Roy Shreyas, Deladoey Johnny, Rousseau Élisabeth, St-Vil Dickens, Piché Nelson
Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada.
Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada; Department of Surgery, Division of Pediatric Surgery, CHU Sainte-Justine, Montreal, Quebec, Canada.
J Pediatr Surg. 2018 Feb;53(2):283-285. doi: 10.1016/j.jpedsurg.2017.11.015. Epub 2017 Nov 13.
The aim of the study was to evaluate the outcomes of prophylactic thyroidectomies performed in an academic setting in the context of multiple endocrine neoplasia type 2 (MEN2) syndrome.
A chart review of patients <18years old who underwent prophylactic thyroidectomy for a MEN2 syndrome at a children's hospital between 2006 and 2015 was performed.
The study included 21 patients (57% female) with a mean age of 6.2±2.5years. All patients were asymptomatic at first evaluation. Nineteen had MEN2A syndrome with RET proto-oncogene mutations identified. The remaining two were RET-negative with familial medullary thyroid cancer (FMTC). One patient had a concomitant Hirschsprung disease. Of the 11 patients who had RET proto-oncogene mutations ranked as Moderate Risk for medullary thyroid cancer (MTC) (American Thyroid Association), one had a microcarcinoma on the resected specimen, and the others had C-Cell Hyperplasia. Among the 8 patients who had RET proto-oncogene mutations ranked as High Risk level for MTC, all had microcarcinoma. Of the nine patients with microcarcinoma, three underwent surgery after 5years of age. No microcarcinoma exceeded 6mm. There were no permanent complications. Six patients experienced transient hypocalcemia, of which only one was symptomatic. No patients had lymph node involvement, and no recurrence was noted during the follow-up period.
Of 21 children with familial thyroid cancer syndrome who underwent a prophylactic thyroidectomy, nine had microcarcinoma. This study highlights the need for a complete familial history, including FMTC history and mandatory preventive surgical approach.
III.
本研究旨在评估在学术环境中针对2型多发性内分泌腺瘤（MEN2）综合征进行预防性甲状腺切除术的效果。
对2006年至2015年间在一家儿童医院因MEN2综合征接受预防性甲状腺切除术的18岁以下患者进行病历回顾。
该研究纳入了21例患者（57%为女性），平均年龄为6.2±2.5岁。所有患者初诊时均无症状。19例患有MEN2A综合征且检测到RET原癌基因突变。其余2例为RET阴性的家族性甲状腺髓样癌（FMTC）。1例患者合并先天性巨结肠。在11例RET原癌基因突变被美国甲状腺协会列为甲状腺髓样癌（MTC）中度风险的患者中，1例切除标本上有微癌，其他患者为C细胞增生。在8例RET原癌基因突变被列为MTC高风险水平的患者中，均有微癌。在9例有微癌的患者中，3例在5岁后接受手术。微癌均未超过6mm。无永久性并发症。6例患者出现短暂性低钙血症，其中仅1例有症状。无患者有淋巴结受累，随访期间未发现复发。
在21例接受预防性甲状腺切除术的家族性甲状腺癌综合征患儿中，9例有微癌。本研究强调了获取完整家族史的必要性，包括FMTC病史以及采取强制性预防性手术方法的必要性。
III级。
