Recent results of basic and clinical research in MEN1: Opportunities to improve early detection and treatment

Cornelis Jm Lips, Koen Ma Dreijerink, Thera P. Links, Jo Wm Höppener

Research output: Contribution to journalReview articleAcademicpeer-review

3 Citations (Scopus)


Due to the variable expression of multiple endocrine neoplasia type 1 (MEN1), it is difficult to predict the course of the disease. However, knowledge about the normal function of the MEN1 gene product, together with the effects of cellular derangement by subsequent genetic events, has increased considerably. At first, the possible existence of a genotype-phenotype correlation is discussed. Thus, mild-and late-onset phenotypes may be distinguished from more malignant phenotypes depending on the character of the primary MEN1 disease gene mutation. Subsequently, tumor-promoting factors such as gender, additional genetic mutations and ecogenetic factors may contribute to the course of the disease. New developments in management are based on the knowledge and experience of the multidisciplinary teams involved. Finally, the metabolic effects of MEN1 mutations in aged patients are discussed. Early identification of predisposition to the disease, together with knowledge about the natural history of specific mutations, risks of additional mutations and periodic clinical monitoring, allow early treatment and may improve life expectancy and quality of life.

Original languageEnglish
Pages (from-to)331-344
Number of pages14
JournalExpert Review of Endocrinology and Metabolism
Issue number3
Publication statusPublished - 1 May 2012


  • DNA diagnosis
  • MEN1
  • genetic testing
  • genotype-phenotype correlation
  • menin
  • multiple endocrine neoplasia type 1
  • mutation analysis
  • periodic clinical monitoring
  • preimplantation genetic diagnosis
  • presymptomatic treatment
  • target-directed treatment
  • variable expression

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