Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.
Francesca Lanzaro1, Delia De Biasio1, Francesco Giustino Cesaro1
1Department of Woman, Child and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138 Naples, Italy.
Journal of Clinical Medicine
|September 28, 2024
Summary
Multiple endocrine neoplasia (MEN) syndromes involve tumors linked to specific gene mutations. Genetic and environmental factors cause varied clinical presentations, requiring further investigation for better patient management.
Area of Science:
- Genetics
- Endocrinology
- Oncology
Background:
- Multiple endocrine neoplasia (MEN) syndromes are inherited tumor disorders.
- Mutations in MEN1, RET, CDKN1B, and MAX genes cause MEN syndromes.
- Significant genetic and phenotypic heterogeneity exists within MEN syndromes.
Purpose of the Study:
- To review the genetic basis and clinical heterogeneity of MEN syndromes.
- To discuss the impact of modifying genes and environmental factors on MEN phenotypes.
- To highlight the need for a shift in focus towards understanding disease gene expression and regulation.
Main Methods:
- Literature review of MEN syndromes.
- Analysis of genetic and phenotypic data.
- Discussion of preclinical and translational considerations.
Main Results:
- MEN syndromes exhibit considerable clinical variability, even within families.
- Phenotypic heterogeneity is influenced by modifying genes and environmental factors.
- The traditional view of monogenic or multifactorial disorders is insufficient to explain MEN complexity.
Conclusions:
- Understanding factors controlling cellular functions and disease gene expression is crucial.
- Future research should focus on genetic variants and regulatory mechanisms.
- Insights gained will inform patient counseling, therapy, and prophylaxis.
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