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A family of multiple endocrine neoplasia type 2A: genetic analysis and clinical features

H Morita1, H Daidoh, K Nagata

  • 1Third Department of Internal Medicine, Gifu University School of Medicine, Japan.

Endocrine Journal
|February 1, 1996
PubMed

Insights

Genetic analysis identified a new RET proto-oncogene mutation causing multiple endocrine neoplasia type 2A (MEN 2A). This discovery aids in screening MEN 2A families and understanding disease prognosis.

Area of Science:

  • Endocrinology
  • Human Genetics
  • Oncology

Background:

  • Multiple endocrine neoplasia type 2A (MEN 2A) is a hereditary disorder linked to germline mutations in the RET proto-oncogene.
  • Over 20 distinct RET mutations have been identified in MEN 2A kindreds since its discovery in 1993.

Observation:

  • A novel heterozygous missense mutation, cysteine to serine substitution at codon 618 in exon 10 of the RET proto-oncogene, was identified in an MEN 2A family.
  • This specific mutation created a new Alu I restriction enzyme cleavage site, enabling efficient family screening via PCR product digestion.

Findings:

  • Eleven out of 20 family members across four generations carried the identified RET proto-oncogene mutation.
  • All adult gene carriers, except one woman, developed medullary thyroid carcinoma (MTC).
  • Pheochromocytoma was observed only in the proband, and hyperparathyroidism was not evident. The family exhibited a favorable prognosis, with no deaths directly attributed to MEN 2A.

Implications:

  • Genetic analysis of the RET proto-oncogene is crucial for effective screening and diagnosis of MEN 2A within affected families.
  • Accumulating data on MEN 2A cases and correlating specific mutations with clinical phenotype and prognosis is essential for personalized patient management.

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