Multiple endocrine neoplasia type 1

Abstract

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal-dominant inherited tumor syndrome characterized by hyperplasia and/or tumors in the parathyroid glands, the pancreatic islets, the anterior pituitary and adrenal glands, as well as neuroendocrine tumors in the thymus, lungs and stomach, and tumors in nonendocrine tissues. In 1997, the responsible MEN1 gene was identified as a tumor-suppressor gene and its product was named menin. In this review, guidelines for early diagnosis, including MEN1 gene mutation analysis, and treatment, including periodic clinical monitoring, have been formulated, enabling improvement of life expectancy and quality of life. Identification of menin-interacting proteins has provided new insights into the function of menin, notably involving regulation of gene transcription related to proliferation and apoptosis, genome stability and DNA repair, and endocrine/metabolic homeostasis. In the near future, target-directed intervention may prevent or delay the onset of MEN 1-related tumors.

Keywords::

• DNA diagnosis
• genetic testing
• MEN 1
• menin
• multiple endocrine neoplasia type 1
• mutation analysis
• periodic clinical monitoring
• presymptomatic treatment

Financial & competing interests disclosure

Koen Dreijerink is supported by the Netherlands Organization for Health Research and Development (ZonMw; AGIKO-stipendium). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Notes

If clinical suspicion regarding insulinoma is present, a fasting test should not be postponed; use of proton-pump inhibitors or H2-receptor blockers may increase chromogranin A levels; oral contraceptives may increase prolactin levels. There is no complete consensus on the guidelines [1].