Treatment of Minute Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2A Families First Diagnosed by DNA Analysis of RET Proto-Oncogene Mutations: A Case Report

Tomoyuki Yamashita, Masatoshi Iihara, Joji Okamoto, Masako Kanbe, Yukio Ito, Makio Kawakami, Shin Ichi Egawa, Ken Yamaguchi, Takao Obara

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

Multiple endocrine neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. It has recently been shown to be associated with germ-line mutations in the RET proto-oncogene. We describe a 21-year-old man from a MEN 2A family who was found by DNA analysis to be a gene carrier of MEN 2A and then was diagnosed, using a stimulated calcitonin test, as having presymptomatic medullary thyroid carcinoma. His morbidity seems to have been cured by total thyroidectomy as postoperative calcitonin levels after stimulation are normal. It is concluded that direct genetic analysis for mutations in the RET proto-oncogene should be the diagnostic test of choice for identifying family members at risk for MEN 2A.

Original languageEnglish
Pages (from-to)42-45
Number of pages4
JournalJapanese journal of clinical oncology
Volume27
Issue number1
DOIs
Publication statusPublished - 1997
Externally publishedYes

Keywords

  • Medullary thyroid carcinoma
  • Multiple endocrine neoplasia (MEN) 2A
  • RET proto-oncogene

ASJC Scopus subject areas

  • Oncology
  • Radiology Nuclear Medicine and imaging
  • Cancer Research

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