Multiple endocrine neoplasia type 1 other diagnostic studies

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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

Genetic Testing

  • Identifying an MEN1 gene mutation in the proband early in the disease process can allow for early detection and treatment of tumors and earlier identification of at-risk family members.
  • Many studies have been performed to determine the prevalence of MEN1 gene mutations among patients with apparently sporadic MEN1-related tumors.
  • Genetic testing for mutations in MEN1 is recommended if one of the following conditions is present
  • Gastrinoma at any age.
  • Multifocal duodenopancreatic NETs at any age
  • Parathyroid hyperplasia/adenomas before age 30 or 40 years
  • Multiglandular parathyroid adenomas/hyperplasia or recurrent PHPT
  • Presence of one of the three main MEN1 tumors plus one of the less common tumors/findings
  • Presence of two or more features (e.g., adrenal adenomas and carcinoid tumor)