multiple endocrine neoplasia type 1

Definition: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder characterized by multiple parathyroid, pancreatic, duodenal, and pituitary neuroendocrine tumors. Nonendocrine mesenchymal tumors, such as lipomas, collagenomas, and angiofibromas have also been reported.Multiple endocrine neoplasia type I is caused by mutation in the MEN1 gene.

Nota bene: Multiple endocrine neoplasia syndromes (MENs) - Other forms of multiple endocrine neoplasia include MEN2A (MIM.171400) and MEN2B (162300), both of which are caused by mutation in the RET gene (MIM.164761), and MEN4 (MIM.610755), which is caused by mutation in the CDKN1B gene (MIM.600778).

Etiology

 germline MEN1 mutations at 11q13

Clinical synopsis

 intractable peptic ulcer
 diarrhea
 Zollinger-Ellison syndrome
 esophagitis
 thyroid disease
 cafe-au-lait macules
 confetti-like hypopigmented macules
 multiple gingival papules

Tumoral predisposition

 subcutaneous lipomas
 facial angiofibromas
 collagenomas
 pancreati endocrine tumors

• pancreatic islet cell adenoma (insulinoma)
• glucagonoma

 parathyroid adenoma (hyperparathyroidism)
 pituitary adenoma

• prolactinoma
• acromegaly

 adrenocortical adenomas (Cushing syndrome)

 digestive endocrine tumors

• vasointestinal peptide tumor (VIPoma)
• digestive carcinoid tumors
• gastrinoma

Laboratory abnormalities -

 Elevated ACTH
 Abnormal secretin test
 Elevated gastrin concentration
 Hypercalcemia
 Hypoglycemia
 Elevated PTH (parathyroid hormone)

References

 Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis MC, Simonds WF, Mateo C, Crabtree JS, Scacheri PC, Ji Y, Novotny EA, Garrett-Beal L, Ward JM, Libutti SK, Richard Alexander H, Cerrato A, Parisi MJ, Santa Anna-A S, Oliver B, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. Molecular pathology of the MEN1 gene. Ann N Y Acad Sci. 2004 Apr;1014:189-98. PMID: 15153434

 Schussheim DH, Skarulis MC, Agarwal SK, Simonds WF, Burns AL, Spiegel AM, Marx SJ. Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocrinol Metab. 2001 May-Jun;12(4):173-8. PMID: 11295574