Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes.

Abstract

BACKGROUND:

Clinical manifestations and treatment outcomes in children and adolescents with multiple endocrine neoplasia type 1 are not well characterized.

METHODS:

We conducted a retrospective cohort study of 80 patients with multiple endocrine neoplasia type 1 who commenced tumor surveillance at ≤18 years of age.

RESULTS:

Fifty-six patients (70%) developed an endocrine tumor by age ≤18 years (median age = 14 years, range = 6-18 years). Primary hyperparathyroidism occurred in >80% of patients, with >70% undergoing parathyroidectomy, in which less-than-subtotal (<3-gland) resection resulted in decreased disease-free outcomes versus subtotal (3-3.5-gland) or total (4-gland) parathyroidectomy (median 27 months versus not reached; P = .005). Pancreaticoduodenal neuroendocrine tumors developed in ∼35% of patients, of whom >70% had nonfunctioning tumors, >35% had insulinomas, and <5% had gastrinomas, with ∼15% having metastases and >55% undergoing surgery. Pituitary tumors developed in >30% of patients, and ∼35% were macroprolactinomas. Tumor occurrence in male patients and female patients was not significantly different. Genetic analyses revealed 38 germline MEN1 mutations, of which 3 were novel.

CONCLUSION:

Seventy percent of children aged ≤18 years with multiple endocrine neoplasia type 1 develop endocrine tumors, which include parathyroid tumors for which less-than-subtotal parathyroidectomy should be avoided; pancreaticoduodenal neuroendocrine tumors that may metastasize; and pituitary macroprolactinomas.

• Authors: Omair A Shariq, Kate E Lines, Katherine A English, Bahram Jafar-Mohammadi, Philippa Prentice, Ruth Casey, Benjamin G Challis, Andreas Selberherr, Hannah Boon, Treena Cranston, Fiona J Ryan, Radu Mihai, Ultan Healy, Tom Kurzawinski, Mehul T Dattani, Irina Bancos, Benzon M Dy, Melanie L Lyden, William F Young Jr, Travis J McKenzie, Duncan Richards, Rajesh V Thakker
• Journal: Surgery (Surgery) Vol. 171 Issue 1 Pg. 77-87 (01 2022) ISSN: 1532-7361 [Electronic] United States
• PMID: 34183184 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2021 Elsevier Inc. All rights reserved.

Topics

• Adolescent
• Child
• Duodenal Neoplasms (epidemiology, genetics, surgery)
• Female
• Humans
• Hyperparathyroidism, Primary (epidemiology, genetics, surgery)
• Male
• Multiple Endocrine Neoplasia Type 1 (complications, genetics, surgery)
• Pancreatic Neoplasms (epidemiology, genetics, surgery)
• Parathyroid Neoplasms (epidemiology, genetics, surgery)
• Parathyroidectomy (statistics & numerical data)
• Retrospective Studies