儿科头颈部表现与多发性内分泌肿瘤综合征相关。
Pediatric head and neck manifestations associated with multiple endocrine neoplasia syndromes.
机构信息
University of Colorado School of Medicine, Aurora, CO, USA.
Department of Otolaryngology, University of Colorado School of Medicine, Aurora, CO, USA.
出版信息
Int J Pediatr Otorhinolaryngol. 2023 Oct;173:111703. doi: 10.1016/j.ijporl.2023.111703. Epub 2023 Aug 18.
INTRODUCTION
Multiple endocrine neoplasia (MEN) syndromes are a group of hereditary cancer syndromes that can predispose children to endocrine neoplasms developing within the head and neck.
OBJECTIVE
To examine the neoplastic manifestations of MEN type 1 (MEN1) and MEN type 2 (MEN2) in the pediatric head and neck.
METHODS
Single-institution, retrospective review of pediatric MEN between 2005 and 2022.
RESULTS
Fifty-three children were genetically confirmed with MEN (15 MEN1, 34 MEN2A, and 4 MEN2B), while three patients received clinical diagnoses of MEN1. The male to female ratio was essentially equal (1.15:1), and a documented family history of cancer was present in 89% (50/56). After multidisciplinary evaluation, a familial MEN diagnosis was confirmed in 91% (51/56). The mean ages of initial presentation and surgical intervention were 8.9 years (SD 5) and 9.8 years (SD 4.8), respectively. Although patients with MEN2 received surgery earlier than patients with MEN1 (8.7 vs 12.7 years), surgical patients with MEN2 in this cohort were older relative to current American Thyroid Association (ATA) guidelines primarily due to late presentation. Thyroid malignancies were identified in 36% (9/25) of thyroidectomy specimens (21 MEN2A, 4 MEN2B), with medullary thyroid carcinoma (MTC) present in five MEN2A patients and three MEN2B patients (89%), and papillary thyroid carcinoma (PTC) present in one MEN2A patient (11%). Nearly 90% (8/9) of thyroid malignancies were occult, with some occurring earlier than predicted by current guidelines (ATA-MOD and ATA-H). Central neck dissections were performed in 24% (2 MEN1, 2 MEN2A, and 4 MEN2B), with two MEN2B (50%) demonstrating cervical lymph node (LN) metastases. Additional histopathologic findings included C-cell hyperplasia in 57% (12/21) of MEN2A thyroidectomy patients. Of the eight MEN1 parathyroidectomy patients, four demonstrated parathyroid hyperplasia and four presented with parathyroid adenoma.
CONCLUSION
Nearly 60% required head and neck procedures. While MEN1 guidelines were appropriate for our cohort, we identified patients with MEN2 that developed MTC earlier than expected based on current ATA guidelines, including children in categories considered lower risk. In conjunction with a multidisciplinary approach, pediatric head and neck surgeons should be aware of the potential need for earlier surgical intervention in the pediatric MEN2 population.
简介
多发性内分泌肿瘤（MEN）综合征是一组遗传性癌症综合征，可使儿童易患头颈部内分泌肿瘤。
目的
研究 1 型多发性内分泌肿瘤（MEN1）和 2 型多发性内分泌肿瘤（MEN2）在儿科头颈部的肿瘤表现。
方法
对 2005 年至 2022 年间单机构儿科 MEN 的病例进行回顾性研究。
结果
53 名儿童经基因检测证实患有 MEN（15 例 MEN1、34 例 MEN2A 和 4 例 MEN2B），3 例患者临床诊断为 MEN1。男女比例基本相等（1.15:1），89%（50/56）的患者有癌症家族史。经过多学科评估，91%（51/56）的患者被确诊为家族性 MEN。首发和手术干预的平均年龄分别为 8.9 岁（标准差 5）和 9.8 岁（标准差 4.8）。尽管 MEN2 患者的手术时间早于 MEN1 患者（8.7 岁比 12.7 岁），但本队列中接受手术的 MEN2 患者比当前美国甲状腺协会（ATA）指南规定的年龄大，主要是因为他们的发病较晚。36%（9/25）的甲状腺切除术标本中发现甲状腺恶性肿瘤（21 例 MEN2A，4 例 MEN2B），5 例 MEN2A 患者和 3 例 MEN2B 患者（89%）中存在甲状腺髓样癌（MTC），1 例 MEN2A 患者（11%）中存在甲状腺乳头状癌（PTC）。近 90%（8/9）的甲状腺恶性肿瘤为隐匿性，其中一些发生时间早于当前指南（ATA-MOD 和 ATA-H）预测的时间。24%（2 例 MEN1、2 例 MEN2A 和 4 例 MEN2B）的患者进行了中央颈部清扫术，其中 2 例 MEN2B（50%）患者发生颈部淋巴结（LN）转移。其他组织病理学发现包括 57%（21 例 MEN2A 甲状腺切除术患者）的 C 细胞增生。8 例 MEN1 甲状旁腺切除术患者中，4 例甲状旁腺增生，4 例甲状旁腺腺瘤。
结论
近 60%的患者需要进行头颈部手术。虽然 MEN1 指南适用于我们的队列，但我们发现 MEN2 患者的 MTC 比当前 ATA 指南预测的更早发病，包括被认为风险较低的儿童。结合多学科方法，儿科头颈部外科医生应意识到在儿科 MEN2 人群中需要更早进行手术干预的可能性。
Zotero 插件