A family of multiple endocrine neoplasia type 2A with the RET proto-oncogene mutation in codon 618 (Cys→Arg)

Atsunori Nakao, Yoshio Naomoto, Masafumi Kataoka, Minoru Haisa, Kazuhiko Kataoka, Shinya Saitoh, Toshiyoshi Fujiwara, Tomoki Yamatsuji, Kaoru Shigemitsu, Tatsuo Umeoka, Hiroshi Isozaki, Hitoyasu Futami, Ken Yamaguchi, Noriaki Tanaka

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Multiple endocrine neoplasia type 2 (MEN-2) is a hereditary syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperplasia or adenoma of the parathyroid gland with hyperparathyroidism. Recent genetic studies have identified the presence of germline missense mutations in the RET proto-oncogene in almost 100% of MEN-2 patients. We report here three generations of one MEN-2 family with rare missense mutation at codon 618 (Cys→Arg) of the RET proto-oncogene. The first patient was surgically treated at the age of 63 years but died of bone metastasis. His two children (29-year-old daughter and 25-year-old son) were treated surgically for MTC and neck lymph node metastasis. Germline mutations of the RET proto-oncogene of these three MTC patients and two children of the 29-year-old daughter (9-year-old female and 7-year-old male) were examined. Three MTC patients and the 9-year-old female possessed the mutation. The phenotype of the family with this rare point mutation of the RET proto-oncogene is reported.

Original languageEnglish
Pages (from-to)157-161
Number of pages5
JournalJapanese journal of clinical oncology
Volume31
Issue number4
DOIs
Publication statusPublished - 2001

Keywords

  • Medullary thyroid carcinoma
  • Multiple endocrine neoplasia type 2A
  • Prophylactic surgery
  • RET proto-oncogene

ASJC Scopus subject areas

  • Oncology
  • Radiology Nuclear Medicine and imaging
  • Cancer Research

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