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.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to SurgeryAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).J Clin Endocrinol Metab. 2012; 97: 2990-3011
- Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers.Clin Endocrinol (Oxf). 2007; 67: 613-622
- Radiological surveillance in multiple endocrine neoplasia type 1: a double-edged sword?.Endocr Connect. 2017; 6: 151-158
- Is routine screening of young asymptomatic men1 patients necessary?.World J Surg. 2017; 41: 2026-2032
- Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.J Clin Endocrinol Metab. 2009; 94: 3640-3646
- Penetrance of functioning and nonfunctioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life.J Clin Endocrinol Metab. 2014; 99: E89-96
- When parathyroidectomy should be indicated or postponed in adolescents with MEN1-related primary hyperparathyroidism.Front Endocrinol (Lausanne). 2018; 9: 597
- MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors.Endocrine. 2018; 59: 438-448
- MEN1 disease occurring before 21 years old: A 160-patient cohort study from the Groupe d'étude des Tumeurs Endocrines.J Clin Endocrinol Metab. 2015; 100: 1568-1577
- Paediatric and young adult manifestations and outcomes of multiple endocrine neoplasia type 1.Clin Endocrinol (Oxf). 2019; 91: 633-638
- Pancreaticoduodenal endocrine tumors in multiple endocrine neoplasia type 1: surgery or surveillance?.Surgery. 2000; 128: 958-966
- Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.Hum Mol Genet. 2013; 22: 1940-1948
- Higher risk of aggressive pancreatic neuroendocrine tumors in MEN1 patients with MEN1 mutations affecting the CHES1 interacting MENIN domain.J Clin Endocrinol Metab. 2014; 99: E2387-E2391
- Ischemic stroke as the presenting symptom of primary hyperparathyroidism due to multiple endocrine neoplasia type 1.J Pediatr. 2008; 153: 582-585
- Treatment-resistant pediatric giant prolactinoma and multiple endocrine neoplasia type 1.Int J Pediatr Endocrinol. 2015; 2015: 15
- Causes of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors.Medicine (Baltimore). 2013; 92: 135-181
- Health-related quality of life in MEN1 patients compared with other chronic conditions and the United States general population.Surgery. 2018; 163: 205-211
- and the International Cancer of the Pancreas Screening (CAPS) consortium. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.Gut. 2020; 69: 7-17
- Pituitary adenomas in the setting of multiple endocrine neoplasia type 1: a single-institution experience.J Neurosurg. 2020; (Available from: https://doi.org/10.3171/2020.1.jns193538)
- Long-term natural course of pituitary tumors in patients with MEN1: Results from the DutchMEN1 Study Group (DMSG).J Clin Endocrinol Metab. 2015; 100: 3288-3296
- Prolactinoma in childhood and adolescence-Tumour size at presentation predicts management strategy: Single centre series and a systematic review and meta-analysis.Clin Endocrinol (Oxf). 2021; 94: 413-423
- Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.J Clin Endocrinol Metab. 2002; 87: 457-465
- Optimal extent of initial parathyroid resection in patients with multiple endocrine neoplasia syndrome type 1: A meta-analysis.Surgery. 2021; 169: 302-310
- Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.J Clin Endocrinol Metab. 2002; 87: 2688-2693
- Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.Hum Mutat. 1999; 13: 175-185
Article info
Publication history
Published online: June 25, 2021
Accepted:
April 20,
2021
Identification
Copyright
© 2021 Elsevier Inc. All rights reserved.
ScienceDirect
Access this article on ScienceDirectLinked Article
- Corrigendum to ‘Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes’ [Surgery 171 (2021) 77–87]SurgeryVol. 171Issue 6
- PreviewThe authors regret that in the published version of Table V, there were typographical errors in rows 1 and 4. The authors also regret that the version of Supplementary Table 1 in the Supplemental Materials document is incorrect. The corrected version of Table V and Supplementary Table 1 have been included below. The authors wish to apologise for any inconvenience caused.
- Full-Text
- Preview
