Pathophysiology: Multiple endocrine neoplasia or MEN is part of a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia involves tumors in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant).
The frequency of multiple endocrine neoplasia type 1 (MEN1) is estimated to be 1 case in 30,000 persons. Benign endocrine and cutaneous tumors cause morbidity, and malignancies cause most mortality (see Complications) in multiple endocrine neoplasia type No racial predilection is known for multiple endocrine neoplasia type 1.
Patients may desire to have these cutaneous tumors removed because of cosmetic concerns, particularly with the larger facial angiofibromas. A variety of surgical methods have been used to treat angiofibromas in patients with tuberous sclerosis, and these treatments are likely applicable to angiofibromas in patients with multiple endocrine neoplasia type 1 (MEN1).
Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.