Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Preferred initial test to confirm diagnosis of MEN1
Polymerase Chain Reaction/Sequencing
Acceptable initial test to confirm diagnosis of MEN1
See Related Tests for tumor testing and screening including anterior pituitary and carcinoid tumor testing, gastrinoma testing, medullary thyroid carcinoma testing, pancreatic neuroendocrine tumor testing, parathyroid tumor testing, and pheochromocytoma testing.
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary syndrome caused by pathogenic variants in the MEN1 gene and is associated with a combination of endocrine and nonendocrine tumors. In MEN1, tumors are most often found in the parathyroid gland, islet cells of the pancreas, and pituitary gland. Tumors can also form in other endocrine glands and the digestive tract. The majority of MEN1 tumors are benign but tumors of the gastroenteropancreatic tract and thymic carcinoids may be malignant. Endocrine tumors cause an increased hormone production based on tumor type, resulting in a wide range of symptoms.
- MEN1 can include development of multiple endocrine and nonendocrine tumors
- Common endocrine tumors:
- Gastroenteropancreatic tract (gastrinoma, insulinoma, glucagonoma, pancreatic islet cell tumor)
- Pituitary (prolactinoma)
- Carcinoid (thymic, bronchial, gastric)
- Medullary carcinoma of the thyroid
- Nonendocrine tumors:
- Facial angiofibromas
- ~50% by 20 years
- >95% by 40 years
De novo variants: ~10%
Inactivating variants of MEN1 tumor suppressor gene
Combined testing: ~94%
- One pathogenic variant detected in MEN1
- Confirms diagnosis and etiology of MEN1
- No detectable pathogenic variant detected in MEN1
- Reduces, but does not exclude, a diagnosis of MEN1
- Uncertain: variants of unknown clinical significance may be detected
- Not evaluated:
- Regulatory region or deep intronic variants
- Breakpoints of large deletions/duplications
- Variants in genes other than MEN1
- Diagnostic errors can occur due to rare sequence variations
Brandi ML. Rare Disease Database: multiple endocrine neoplasia type 1. National Organization for Rare Disorders. [Published: 2018; Accessed: Sep 2019]
Ki Wong F, Burgess J, Nordenskjöld M, et al. Multiple endocrine neoplasia type 1. Semin Cancer Biol. 2000;10(4):299-312.
Giusti F, Marini F, Brandi ML. Multiple endocrine neoplasia type 1. In: Adam MP, Ardinger HH, Pagon RA, et al, editors. GeneReviews, University of Washington; 1993-2021. [Last update: Dec 2017; Accessed: Feb 2020]
Online Mendelian Inheritance in Man. Multiple endocrine neoplasia type 1. [Edited: Feb 2017; Accessed: Mar 2020]
Bassett JH, Forbes SA, Pannett AA, et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet. 1998;62(2):232-244.
Thakker RV, Newey PJ, Walls GV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012;97(9):2990-3011.