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[Multiple endocrine neoplasia]

I Morimoto

    Nihon Rinsho. Japanese Journal of Clinical Medicine
    |April 1, 1995
    PubMed
    Summary
    This summary is machine-generated.

    Multiple endocrine neoplasia (MEN) are inherited tumor syndromes involving endocrine gland abnormalities. This review covers MEN 1, 2A, and 2B clinical features and genetic links in Japan.

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    Area of Science:

    • Endocrinology
    • Genetics
    • Oncology

    Background:

    • Multiple endocrine neoplasia (MEN) comprises inherited tumor syndromes with endocrine hyperfunctions.
    • Syndromes are classified as MEN 1, MEN 2A, and MEN 2B based on distinct abnormalities.
    • Hyperparathyroidism is a common feature in MEN 1 and MEN 2A.

    Observation:

    • MEN 1 is associated with allelic deletions on chromosome 11q13.
    • MEN 2A and MEN 2B are linked to germ-line mutations in the RET proto-oncogene.
    • This study reviews the clinical characteristics of MEN syndromes in Japan.

    Findings:

    • Genetic analysis reveals specific chromosomal and gene mutations associated with MEN types.
    • Clinical presentations of MEN 1, 2A, and 2B in the Japanese population are detailed.

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  • Case reports illustrate the genetic basis and clinical manifestations of these syndromes.

    • Implications:

    • Understanding the genetic basis of MEN aids in diagnosis and management.
    • Genetic screening can identify individuals at risk for developing MEN syndromes.
    • This review provides valuable insights for clinicians and researchers in Japan and globally.