ICD-9-CM Diagnosis 258.0

Polyglandular activity in multiple endocrine adenomatosis

A rare syndrome characterized by hyperplasia and/or neoplasms of the pituitary, parathyroid glands, and pancreatic islets. Hyperparathyroidism occurs in 90% of the cases and is usually the first manifestation of the syndrome. The most frequent pancreatic manifestation is gastrinoma typically leading to Zollinger-Ellison Syndrome. The appearance of this condition has been limited to the loss of allelic heterozygosity at the 11q13 locus on the long arm of chromosome 11. Patients overall exhibit long survival times. Chemotherapy is rare and surgical management is generally dependent on the genetic expression in individual patients. (From Holland et al., Cancer Medicine, 3d ed, pp1169-72)
The MEN1 gene is a cloned tumor suppressor gene for Multiple Endocrine Neoplasia, a predisposition for endocrine tumors and carcinoid tumors. The gene encodes the tumor suppressor protein MEN1, which regulates transcription through direct interaction with, and inhibition of, transcription factor JunD. Menin also interacts with SMAD3 and appears to be required for SMAD3/4-DNA binding at transcriptional regulatory sites. The human gene is located at 11q13.