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Related Experiment Videos

[Multiple endocrine neoplasms type 2. Recent aspects].

P J Guillausseau1, C Calmettes, N Feingold

  • 1Service de Médecine Interne, Hôpital Lariboisière, Paris.

Presse Medicale (Paris, France : 1983)
|December 21, 1991
PubMed
Summary
This summary is machine-generated.

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Multiple endocrine neoplasia type 2 (MEN 2) is an inherited condition with three forms, linked to chromosome 10. Genetic markers help identify individuals at risk for MEN 2, enabling early detection and management.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Context:

  • Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder.
  • MEN 2 presents in three distinct clinical forms: MEN 2a, MEN 2b, and familial medullary thyroid carcinoma.
  • The genetic basis of MEN 2 involves genes located in the pericentromeric region of chromosome 10.

Purpose:

  • To describe the clinical heterogeneity and genetic underpinnings of Multiple Endocrine Neoplasia type 2.
  • To outline current screening methods for familial medullary thyroid carcinoma.
  • To discuss the role of genetic markers in identifying individuals at risk for MEN 2.

Summary:

  • MEN 2a involves medullary thyroid carcinoma, phaeochromocytoma(s), and hyperparathyroidism.
  • MEN 2b includes medullary thyroid carcinoma, Marfan-like syndrome, and mucosal neuromas, with absent parathyroid hyperplasia.

Related Experiment Videos

  • Familial medullary thyroid carcinoma is a variant where only medullary thyroid carcinoma manifests.
  • Histological findings in MEN 2a include multifocal, bilateral C-cell hyperplasia in the thyroid gland.
  • Screening for familial medullary thyroid carcinoma relies on plasma calcitonin levels post-pentagastrin stimulation.
  • DNA markers on chromosome 10 aid in identifying at-risk individuals for MEN 2.
  • Direct gene identification will offer definitive diagnosis for hereditary MEN 2 carriers.

    • Impact:

    • Improved understanding of MEN 2 pathogenesis and genetic linkage.
    • Enhanced diagnostic strategies for MEN 2 through genetic marker analysis.
    • Potential for direct genetic testing to identify individuals carrying the hereditary anomaly for MEN 2.