Multiple endocrine neoplasia type 1 differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

Multiple endocrine neoplasia type 1 must be differentiated from other hereditary diseases such as von Hippel-Lindau syndrome, tuberous sclerosis, carney complex, neurofibromatosis type 1, Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, familial hyperparathyroidism, pheochromocytoma and acromegaly.

Differential Diagnosis

Multiple endocrine neoplasia type 1 must be differentiated from the hereditary diseases shown in the table below.

Disease	Gene	Chromosome	Differentiating Features	Components of MEN			Diagnosis
				Parathyroid	Pitutary	Pancreas
von Hippel-Lindau syndrome	Von Hippel–Lindau tumor suppressor	3p25.3	Angiomatosis,  Hemangioblastomas, Pheochromocytoma,  Renal cell carcinoma, Pancreatic cysts (pancreatic serous cystadenoma) Endolymphatic sac tumor, Bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women)			+
Carney complex	PRKAR1A	17q23-q24	Myxomas of the heart Hyperpigmentation of the skin (lentiginosis) Endocrine (ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease)	-	-	-
Neurofibromatosis type 1	RAS	17	scoliosis Learning disabilities vision disorders Cutaneous lesions epilepsy.	-	-	-
Li-Fraumeni syndrome	TP53	17	Early onset of diverse amount of cancers such as sarcoma, cancers of breast brain adrenal glands	-	-	-
Gardner's syndrome	APC	5q21	Multiple polyps in the colon  Osteomas of the skull Thyroid cancer, Epidermoid cysts, Fibromas Desmoid tumors	-	-	-
Multiple endocrine neoplasia type 2	RET		medullary thyroid carcinoma (MTC) pheochromocytoma Primary hyperparathyroidism	+	-	-
Cowden syndrome	PTEN		Hamartomas,	-	-	-
Acromegaly/gigantism			Enlargement of the hands, feet, nose, lips and ears, and a general thickening of the skin hypertrichosis hyperpigmentation hyperhidrosis carpal tunnel syndrome.	-	+	-
Pituitary adenoma			visual field defects classically bitemporal hemianopsia Increased intracranial pressure migraine lateral rectus palsy		+
Hyperparathyroidism			kidney stones hypercalcemia, constipation peptic ulcers depression	+
Pheochromocytoma/paraganglioma	VHL RET NF1   SDHB  SDHD		Characterized by Episodic hypertension palpitations anxiety diaphoresis weight loss	-	-	-	Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.
Adrenocortical carcinoma	p53 Retinoblastoma h19 insulin-like growth factor II (IGF-II) p57kip2	17p, 13q	Cushing syndrome (cortisol hypersecretion) Conn syndrome (aldosterone hypersecretion) virilization (testosterone hypersecretion)	-	-	-	increased serum glucose increased urine cortisol serum androstenedione and dehydroepiandrosterone low serum potassium low plasma renin activity high serum aldosterone. excess serum estrogen.
Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013