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。本研究旨在探讨儿童头颈部多发性内分泌肿瘤1型（MEN1）和多发性内分泌肿瘤2型（MEN2）的肿瘤表现。选取单个机构，回顾性研究2005年至2022年的儿童MEN病例。共有53名儿童经过基因确诊为MEN（15例MEN1，34例MEN2A和4例MEN2B），另有3名患者经临床诊断为MEN1。男女比例基本相当（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）的患者确诊为家族性MEN病例。初次就诊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患者比MEN1患者接受手术的年龄更早（8.7岁 vs 12.7岁），但该队列中的MEN2手术患者年龄相对于美国甲状腺协会（ATA）指南较大，这主要是由于就诊较晚。甲状腺切除标本中发现了36%（25/69）的甲状腺恶性肿瘤（21例MEN2A，4例MEN2B），其中MEN2A患者中有5例（89%）为髓样甲状腺癌（MTC），MEN2B患者中有3例（11%）为乳头状甲状腺癌（PTC），另有1例MEN2A患者为乳头状甲状腺癌。近90%（8/9）的甲状腺恶性肿瘤是隐匿的，有些比当前指南（ATA-MOD和ATA-H）预测的更早出现。颈中央淋巴结清扫手术在24%的患者中进行（2例MEN1，2例MEN2A和4例MEN2B），其中2例MEN2B（50%）示有颈淋巴结转移。另外，还发现了57%（12/21）的MEN2A甲状腺切除患者出现C细胞增生。MEN1甲状旁腺切除患者中，有4例表现为旁腺增生，4例表现为旁腺腺瘤。近60%的患者需要头颈部手术。虽然MEN1指南适用于我们的队列，但我们发现MEN2患者出现了早于目前ATA指南预期的MTC，包括被认为是低风险类别的儿童。在多学科协作的基础上，儿科头颈部外科医生应意识到儿童MEN2患者可能需要更早的手术干预。版权所有© 2023 Elsevier B.V. 保留所有权利。

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.To examine the neoplastic manifestations of MEN type 1 (MEN1) and MEN type 2 (MEN2) in the pediatric head and neck.Single-institution, retrospective review of pediatric MEN between 2005 and 2022.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.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.Copyright © 2023 Elsevier B.V. All rights reserved.