What's multiple endocrine neoplasia type 2?
Multiple endocrine neoplasia type 2 is a rare inherited tumour syndrome caused by changes in the RET gene.
| Also indexed as | ORPHA:653, MONDO:0019003 |
|---|---|
| Features mapped | 8 |
| Treatments mapped | 1 |
| Published sources | 8 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Medullary thyroid carcinoma
Medullary thyroid carcinoma, the core cancer of MEN2, usually shows up as a lump in the thyroid, with or without swollen lymph nodes, and sometimes with diarrhea or signs that it has spread.
Multiple mucosal neuromas
In MEN2B, benign nerve growths called mucosal neuromas form in the mouth, part of a classic pattern that also includes a tall, long-limbed build and eye and palate changes.
Pheochromocytoma
Multiple endocrine neoplasia type 2A involves medullary thyroid carcinoma and, less often, pheochromocytoma, a tumour of the adrenal gland, or overactive parathyroid glands, or both. Rarely it also involves a skin condition called cutaneous lichen amyloidosis or Hirschsprung's disease.
Parathyroid adenoma
Multiple endocrine neoplasia type 2 involves several tumours, including pheochromocytoma and parathyroid adenoma. Medullary thyroid carcinoma is the one most people with the condition go on to develop.
Hypercalcemia
High calcium in the blood is a common feature of multiple endocrine neoplasia type 2A, arising from overactive parathyroid glands.
Constipation
Persistent constipation, along with unusually flexible joints, is part of the wider picture of multiple endocrine neoplasia type 2B, alongside medullary thyroid carcinoma appearing early and pheochromocytoma appearing later.
Diarrhea
Medullary thyroid carcinoma usually shows up as a lump in the thyroid, with or without swollen lymph nodes. Less often it brings diarrhea or symptoms from spread elsewhere in the body.
Ganglioneuromatosis
Ganglioneuromatosis, an overgrowth of benign nerve tissue in the intestine, was present in every case in one reported series of multiple endocrine neoplasia type 2B.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
prophylactic thyroidectomy
Removing the thyroid gland before cancer develops (prophylactic thyroidectomy), guided by RET genetic screening in affected families, is an effective treatment approach.
Used to help with: Multiple endocrine neoplasia type 2.
“In the recent decades (from 1993) the diagnosis of asymptomatic child carrying RET mutations in the affected families by MTC, has been provided by genetic screening, and prophylactic thyroidectomy is an efficacy therapeutic procedure.”
How to read the evidence labels
Where this comes from
This guide is built from 8 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.