Pediatric head and neck manifestations associated with multiple endocrine neoplasia syndromes

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.

Keywords: Cancer; Familial; MEN; Pediatric; Syndrome.

MeSH terms

  • Child
  • Female
  • Humans
  • Hyperplasia
  • Male
  • Multiple Endocrine Neoplasia Type 2a* / complications
  • Multiple Endocrine Neoplasia Type 2b* / complications
  • Multiple Endocrine Neoplasia Type 2b* / diagnosis
  • Multiple Endocrine Neoplasia* / complications
  • Multiple Endocrine Neoplasia* / genetics
  • Thyroid Neoplasms* / diagnosis
  • Thyroid Neoplasms* / epidemiology
  • Thyroid Neoplasms* / surgery

Supplementary concepts

  • Thyroid cancer, medullary