Multiple endocrine neoplasia (MEN) syndromes are characterized by tumors involving multiple endocrine glands. Subtypes MEN1 and MEN2 are distinguished by clinical features and molecular testing. MEN2 includes the additional subtypes MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).
Quick Answers for Clinicians
ARUP Laboratory Tests
Preferred initial test to confirm diagnosis of MEN1
Clinical sensitivity: combined testing ~94%
- 90% sequencing
- 4% deletion/duplication
Not evaluated: regulatory region variants, deep intronic variants, breakpoints of large deletions/duplications, and variants in genes other than MEN1
Diagnostic errors can occur due to rare sequence variations
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Diagnostic and predictive test for MEN2A and MEN2B
Clinical sensitivity
- MEN2A: 95%
- MEN2B: 98%
Not evaluated: regulatory region variants, deep intronic variants, large deletions/duplications, and RET exons other than 5, 8, 10, 11, 13-16
Diagnostic errors can occur due to rare sequence variations
Polymerase Chain Reaction/Sequencing
Useful when a pathogenic familial variant identifiable by sequencing is known
Consultation with a genetics counselor is advised
Polymerase Chain Reaction/Sequencing
Useful when a pathogenic familial variant identifiable by deletion/duplication analysis is known
Consultation with a genetics counselor is advised
Multiplex Ligation-dependent Probe Amplification
Aid in diagnosis of adrenal insufficiency and determining the presence of anterior pituitary tumors
Quantitative Electrochemiluminescent Immunoassay (ECLIA)
Diagnose and monitor familial medullary thyroid carcinoma (FMTC)
Secondary test to assist in diagnosing multiple endocrine neoplasia type 2 (MEN2)and FMTC
Quantitative Chemiluminescent Immunoassay
Assay aids in monitoring but is not recommended for diagnosis of carcinoid tumors
May be useful in monitoring nonsecretory sympathetic and parasympathetic neuroendocrine tumors
Immunofluorescence
FISH probes for specific microdeletion/microduplication syndromes must be specified; if no specific syndrome is in question, genomic microarray should be ordered instead of screening multiple loci by FISH
Fluorescence in situ Hybridization (FISH)
Aid in detection of insulinoma
Quantitative Chemiluminescent Immunoassay
Aid in diagnosis of carcinoid and gastrinoma tumors
Quantitative Chemiluminescent Immunoassay
Aid in diagnosis and monitoring of glucagonoma
Quantitative Radioimmunoassay
Use to diagnose and manage diabetes mellitus (DM) and other carbohydrate metabolism disorders
Quantitative Enzymatic
Aid in evaluation of patient with allergic signs and symptoms, such as anaphylaxis; may assist in diagnosing and monitoring of mast-cell activation disorders
Quantitative Enzyme-Linked Immunosorbent Assay
Aid in diagnosis of growth hormone excess or deficiency disorders
Quantitative Chemiluminescent Immunoassay
Aid in detection of insulinoma
Quantitative Chemiluminescent Immunoassay
Use to assess cardiovascular disease risk and guide therapy
Quantitative Enzymatic
First-line test in suspected pheochromocytoma
Quantitative Liquid Chromatography-Tandem Mass Spectrometry
Acceptable initial test to confirm diagnosis of MEN1 but does not detect deletions/duplications
Not evaluated: regulatory region variants, deep intronic variants, breakpoints of large deletions/duplications, variants in genes other than MEN1
Diagnostic errors can occur due to rare sequence variations
Clinical sensitivity: 90%
Polymerase Chain Reaction/Sequencing
Aid in diagnosis and monitoring of pancreatic neuroendocrine tumors
Quantitative Radioimmunoassay
Use to evaluate calcium dysregulation
Quantitative Electrochemiluminescent Immunoassay
Screening for anterior pituitary tumor
Quantitative Chemiluminescent Immunoassay
Evaluate for kidney dysfunction in patients with known risk factors (eg, hypertension, diabetes, obesity, family history of kidney disease)
Quantitative Chemiluminescent Immunoassay/Quantitative Enzyme-Linked Immunosorbent Assay
Panel includes albumin, calcium, carbon dioxide, creatinine, chloride, glucose, phosphorous, potassium, sodium, and blood urea nitrogen (BUN) and a calculated anion gap value
Assess thyroid function
Identify risk in patients with palpable thyroid nodules
Quantitative Electrochemiluminescent Immunoassay
Reflex pattern: if the thyroid stimulating hormone is outside the reference interval, then thyroxine, free (free T4) testing will be added
Preferred test for screening and monitoring of thyroid function
Quantitative Chemiluminescent Immunoassay
Preferred serotonin test when diagnosing carcinoid tumors is whole blood
Quantitative High Performance Liquid Chromatography
Aid in diagnosis of VIPoma
Quantitative Radioimmunoassay
Aid in the detection of insulinoma
May aid in distinguishing type 1 from type 2 diabetes mellitus (DM) in ambiguous cases
Do not use to diagnose DM
Quantitative Chemiluminescent Immunoassay
Quantitative Chemiluminescent Immunoassay
Quantitative Chemiluminescent Immunoassay
Quantitative Chemiluminescent Immunoassay
Quantitative Chemiluminescent Immunoassay
Chemiluminescent Immunoassay
Ion-Selective Electrode/pH Electrode
Quantitative Spectrophotometry
Quantitative Ion-Selective Electrode
Quantitative Extraction/Immunoassay
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References
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GeneReviews - Multiple Endocrine Neoplasia Type 1
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]
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NCCN - Neuroendocrine Tumors
NCCN Clinical Practice Guidelines in Oncology, neuroendocrine and adrenal tumors, version 4.2018. National Comprehensive Cancer Network. [Updated: May 2018; Accessed: Jul 2018]
21455198
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Duerr EM, Chung DC. Molecular genetics of neuroendocrine tumors. Best Pract Res Clin Endocrinol Metab. 2007;21(1):1-14.
CAP - Brain/Spinal Cord
College of American Pathologists (CAP). Protocol for the Examination of Specimens from Patients with Tumors of the Brain/Spinal Cord. No AJCC/UICC TNM Staging System. [Posted: Dec 2014; Accessed: Feb 2020]
CAP - Thyroid
College of American Pathologists (CAP). Protocol for the Examination of Specimens from Patients with Carcinomas of the Thyroid Gland, Version 3.2.0.0. [Posted: Jan 2016; Accessed: Mar 2020]
CAP - Neuroendocrine Tumors (Carcinoid Tumors) of the Appendix
College of American Pathologists (CAP). Protocol for the Examination of Specimens from Patients with Neuroendocrine Tumors (Carcinoid Tumors) of the Appendix. [Posted: Oct 2013; Accessed Feb 2020]
CAP - Primary Carcinoma of the Colon and Rectum
College of American Pathologists (CAP). Protocol for the examination of specimens from patients with primary carcinoma of the colon and rectum. [Posted: Feb 2020; Accessed: Mar 2021]
CAP - Neuroendocrine Tumors (Carcinoid Tumors) of the Stomach
College of American Pathologists (CAP). Protocol for the Examination of Specimens from Patients with Neuroendocrine Tumors (Carcinoid Tumors) of the Stomach, Version 4.0.0.0. [Posted: Oct 2013; Accessed Feb 2020]
CAP - Pancreas (Endocrine)
College of American Pathologists (CAP). Protocol for the Examination of Specimens from Patients with Tumors of the Endocrine Pancreas, Version 3.3.0.1. [Posted: Aug 2016; Accessed: Mar 2020]
GeneReviews - Multiple Endocrine Neoplasia Type 1
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]
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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.
Panel includes cholesterol, triglycerides, HDL cholesterol, LDL cholesterol (calculated), non-HDL cholesterol, VLDL cholesterol (calculated), appearance chemistry