Disease Directory Multiple Endocrine Neoplasia Type 1
Endocrine

Multiple Endocrine Neoplasia Type 1

Also known as: MEN1, Wermer syndrome, menin mutation, multiple endocrine neoplasia

Prevalence

2–10 per 100,000

Onset

Usually third to fourth decade; range from childhood to seventh decade

Type

Autosomal dominant

Gene

MEN1

About Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1 is an autosomal dominant tumour predisposition syndrome caused by mutations in the MEN1 tumour suppressor gene encoding menin, characterised by the development of parathyroid adenomas (causing hyperparathyroidism in nearly all affected individuals), entero-pancreatic neuroendocrine tumours, and pituitary adenomas, alongside a range of less frequent non-endocrine manifestations. Parathyroid disease is the most penetrant manifestation and is usually the first to appear, with pancreatic neuroendocrine tumours, particularly gastrinomas causing Zollinger-Ellison syndrome, representing the principal cause of morbidity and mortality. Lifelong surveillance with periodic biochemical and imaging assessments is the cornerstone of management due to the multifocal and metachronous nature of tumour development.

Common Clinical Features

Hypercalcaemia due to primary hyperparathyroidism (nearly universal) Peptic ulcer disease and secretory diarrhoea (gastrinoma/Zollinger-Ellison) Symptoms of hypoglycaemia (insulinoma) Acromegaly or hyperprolactinaemia from pituitary adenoma Recurrent kidney stones (nephrolithiasis) Cushing syndrome from adrenal or ectopic ACTH-secreting tumours Facial angiofibromas, collagenomas, and lipomas (cutaneous manifestations) Carcinoid tumours of the thymus or bronchus

Clinical Trial Eligibility Tips

What to know before applying to Multiple Endocrine Neoplasia Type 1 trials.

Confirmed pathogenic MEN1 germline variant or clinical MEN1 diagnosis (two of three main tumour types) is required for enrolment in hereditary NETs trials; genetic counselling records are valuable.

Active tumour burden (size, number, and function of current lesions) is assessed at screening; recent cross-sectional imaging (CT or MRI) and functional imaging (68Ga-DOTATATE PET) within three to six months are required.

Prior surgical history (parathyroidectomy, pancreatic resection, pituitary surgery) significantly affects eligibility; provide a complete operative history with pathology reports.

Patient Resources

Patient Organization

Association for Multiple Endocrine Neoplasia Disorders

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Natural History Registry

International MEN1 Registry

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Orphanet

European reference resource for rare diseases (ORPHA:652)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Multiple Endocrine Neoplasia Type 1 trials

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