Lallier M, St-Vil D, Giroux M, Huot C, Gaboury L, Oligny L, Desjardins J G
Division of Pediatric General Surgery, Hôpital Sainte-Justine, Montreal, Quebec, Canada.
J Pediatr Surg. 1998 Jun;33(6):846-8. doi: 10.1016/s0022-3468(98)90656-x.
BACKGROUND/PURPOSE: Although medullary thyroid carcinoma (MTC) can occur sporadically, in the pediatric population it is most often associated with the multiple endocrine neoplasia syndrome (MEN type 2). Traditional screening was based on evaluation of basal and stimulated serum calcitonin levels. The recent cloning of the MEN2 gene on the RET proto-oncogene of chromosome 10 now allows for testing of gene carrier status in individuals at risk who could benefit from prophylactic treatment. The current study was undertaken to determine the appropriate age for safe total prophylactic thyroidectomy.
Over a 16-year period, 12 patients with a family history of MEN2A and one with a MEN2B underwent total thyroidectomy and central neck dissection without parathyroid autotransplantation. Four patients (31%) were treated previously for Hirschsprung's disease.
In seven patients (mean age, 11.8 years) undergoing biochemical screening for diagnosis, multifocal MTC and C cell hyperplasia (CCH) were found in all the resected specimens. Of six patients identified with genetic screening (mean age, 9.1 years), two had elevated stimulated calcitonin levels, one (age 14) had evidence of MTC, and one (age 6) had CCH. Four patients with normal calcitonin levels had no evidence of MTC (ages 6, 8, 10) but there was one occurrence of CCH (age 11). No permanent postoperative hypoparathyroidism or recurrent laryngeal nerve damage occurred in this series. With a mean follow-up of 4 years (range, 1 to 14 years), the overall disease-free survival is 100%.
From this study the authors conclude that total thyroidectomy can be performed safely in children and should be the treatment of choice in patients with a family history of MEN2A carrying a germinal RET mutation even if the serum basal or stimulated serum calcitonin level is normal. Total thyroidectomy should be performed as early as 5 years of age before the occurrence of CCH or MTC.
背景/目的：虽然甲状腺髓样癌（MTC）可散发性发生，但在儿童人群中它最常与多发性内分泌肿瘤综合征（2型MEN）相关。传统筛查基于对基础和刺激后的血清降钙素水平的评估。最近在10号染色体的RET原癌基因上克隆出MEN2基因，现在可以对有风险且能从预防性治疗中获益的个体进行基因携带者状态检测。本研究旨在确定安全进行全预防性甲状腺切除术的合适年龄。
在16年期间，12例有MEN2A家族史的患者和1例有MEN2B家族史的患者接受了全甲状腺切除术和中央区颈部清扫术，未进行甲状旁腺自体移植。4例患者（31%）曾因先天性巨结肠接受过治疗。
在7例接受生化筛查以进行诊断的患者（平均年龄11.8岁）中，所有切除标本均发现多灶性MTC和C细胞增生（CCH）。在6例经基因筛查确诊的患者（平均年龄9.1岁）中，2例刺激后的降钙素水平升高，1例（14岁）有MTC证据，1例（6岁）有CCH。4例降钙素水平正常的患者没有MTC证据（年龄分别为6岁、8岁、10岁），但有1例出现CCH（11岁）。本系列中未发生永久性术后甲状旁腺功能减退或喉返神经损伤。平均随访4年（范围1至14年），总体无病生存率为100%。
作者从本研究得出结论，全甲状腺切除术可在儿童中安全进行，对于携带生殖系RET突变且有MEN2A家族史的患者，即使血清基础或刺激后的血清降钙素水平正常，也应作为首选治疗方法。全甲状腺切除术应在5岁时尽早进行，在CCH或MTC发生之前。
