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Multiple endocrine neoplasia type 1 (MEN 1) revisited
B Padberg1, S Schröder, C Capella
1Department of Pathology, University of Zürich, Switzerland.
Virchows Archiv : an International Journal of Pathology
|January 1, 1995
Summary
Multiple endocrine neoplasia type 1 (MEN 1) is an inherited endocrine disorder. Genetic testing using DNA markers can now enable early diagnosis and presymptomatic testing for MEN 1 in families.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple endocrine neoplasia type 1 (MEN 1) is an inherited disease affecting the neuroendocrine system.
- It primarily impacts the parathyroids, pancreas, duodenum, and anterior pituitary.
- Tumors in the pancreas and duodenum associated with MEN 1 typically have low malignant potential but can metastasize.
Purpose of the Study:
- To outline the diagnostic criteria for MEN 1.
- To highlight the significance of the recently identified MEN 1 gene locus.
- To introduce the utility of DNA markers for presymptomatic testing.
Main Methods:
- Diagnosis is typically based on clinical presentation involving at least two affected organs and family history.
- Identification of the MEN 1 gene locus on chromosome 11.
- Application of flanking DNA markers for genetic analysis.
Main Results:
- MEN 1 diagnosis usually occurs in the second decade of life.
- The MEN 1 locus discovery provides a potential new diagnostic criterion.
- Presymptomatic testing for MEN 1 is feasible in at-risk families using DNA markers.
Conclusions:
- MEN 1 is a significant inherited endocrine neoplasia syndrome.
- Genetic advancements, including locus identification and DNA marker testing, improve diagnostic capabilities.
- Early detection and presymptomatic testing are crucial for managing MEN 1 in affected families.