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

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, Travis J. McKenzieDuncan Richards, Rajesh V. Thakker

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalSurgery (United States)
DOIs
StateAccepted/In press - 2021

ASJC Scopus subject areas

  • Surgery

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