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Interpretation of MEN1 genetic testing in an asymptomatic individual

Interpretation of MEN1 genetic testing in an asymptomatic individual
MEN type 1 can be diagnosed genetically (heterozygosity for a pathogenic variant in MEN1, regardless of clinical findings) or clinically. Refer to UpToDate for details of the evaluation.

CLIA: Clinical Laboratory Improvement Amendments; CNS: central nervous system; MEN: multiple endocrine neoplasia; NET: neuroendocrine tumor.

* Clinical findings of MEN type 1 include:

  • Primary hyperparathyroidism.
  • Pituitary adenomas.
  • Duodenopancreatic NETs.
  • Other tumors such as thymic and bronchopulmonary NETs, adrenal adenomas, and tumors of adrenal, CNS, adipose tissue, and skin.
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