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Related Experiment Videos

Multiple endocrine neoplasia.

C Larsson1, M Nordenskjöld

  • 1Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.

Cancer Surveys
|January 1, 1990
PubMed
Summary
This summary is machine-generated.

Genetic mapping of multiple endocrine neoplasias (MEN1 and MEN2A) has identified gene locations on chromosomes 11 and 10, respectively. This breakthrough aids understanding of disease pathogenesis and carrier identification.

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Area of Science:

  • Genetics
  • Oncology
  • Endocrinology

Background:

  • Multiple endocrine neoplasias (MEN1 and MEN2A) are inherited disorders predisposing to tumors in endocrine glands.
  • MEN1 involves primary hyperparathyroidism, pancreatic endocrine tumors, and pituitary adenomas.
  • MEN2A is characterized by medullary thyroid carcinoma and pheochromocytoma.

Purpose of the Study:

  • To report the chromosomal mapping of genes responsible for MEN1 and MEN2A.
  • To advance the understanding of the pathogenesis of these endocrine neoplasias.
  • To facilitate premorbid identification of gene carriers in affected families.

Main Methods:

  • Allele loss analysis in tumors.
  • Genetic linkage analysis using restriction fragment length polymorphism (RFLP) markers.

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  • Deletion mapping to refine gene localization.

    • Main Results:

    • The MEN1 gene was localized to chromosome band 11q13.
    • The MEN2A disease locus was mapped to the centromeric region of chromosome 10.
    • Tumorigenesis in MEN1 parathyroid and pancreatic lesions involves unmasking of a recessive mutation.
    • Allele losses are less common in MEN2A-associated lesions.

    Conclusions:

    • Chromosomal mapping of MEN1 and MEN2A genes represents a significant breakthrough.
    • Established genetic linkage maps and RFLP markers enable premorbid carrier identification.
    • Understanding the genetic basis of MEN1 supports a recessive mutation model for tumorigenesis.