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[The RET gene in multiple endocrine neoplasia type 2 (MEN 2)]

Taichi Ito1, Shuya Shirahama, Kenji Ogura

  • 1SRL Inc., Teikyo University School of Medicine.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|May 20, 2004
PubMed

Insights

Multiple endocrine neoplasia (MEN) and familial medullary thyroid carcinoma (FMTC) are inherited endocrine tumor syndromes caused by RET gene mutations. This study investigated the RET mutation spectrum in 118 Japanese patients with MEN 2A, MEN 2B, or FMTC.

Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Multiple endocrine neoplasia types 2A and 2B (MEN 2A and MEN 2B) and familial medullary thyroid carcinoma (FMTC) are inherited endocrine tumor syndromes.
  • These syndromes are characterized by medullary thyroid carcinoma (MTC) and often other endocrine tumors or specific physical features.
  • Germline mutations in the RET proto-oncogene are the established cause of MEN 2A, MEN 2B, and FMTC.

Purpose of the Study:

  • To investigate the spectrum of RET proto-oncogene mutations in Japanese patients diagnosed with MEN 2A, MEN 2B, or FMTC.
  • To identify specific RET mutations associated with these inherited endocrine neoplasia syndromes within the Japanese population.

Main Methods:

  • Genetic analysis of the RET proto-oncogene.
  • Screening of 118 Japanese patients with a clinical diagnosis of MEN 2A, MEN 2B, or FMTC.
  • Detailed analysis of the entire RET gene sequence to detect mutations.

Main Results:

  • The study identified various germline mutations in the RET proto-oncogene among the analyzed patients.
  • Specific mutation patterns were observed, correlating with the clinical subtypes of MEN 2A, MEN 2B, and FMTC.
  • The findings confirm the critical role of RET mutations in the pathogenesis of these syndromes in Japan.

Conclusions:

  • Germline mutations in the RET proto-oncogene are the underlying cause of MEN 2A, MEN 2B, and FMTC in Japanese patients.
  • Understanding the RET mutation spectrum is crucial for accurate diagnosis, genetic counseling, and potential targeted therapies.
  • This research contributes to the comprehensive understanding of the genetic basis of inherited endocrine tumors globally.

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