Multiple endocrine neoplasia type 2A with the identical somatic mutation in medullary thyroid carcinoma and pheochromocytoma without germline mutation at the corresponding site in the RET proto-oncogene

Hiroyoshi Akama, Takao Noshiro, Noriko Kimura, Kazumasa Shimizu, Toshiya Watanabe, Satoru Shibukawa, Shigeyasu Nakai, Wakako Miura, Sadayoshi Ito, Yukio Miura

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

A germline mutation either in exon 10 or 11 of the RET proto-oncogene is found in the majority of patients with multiple endocrine neoplasia type 2A (MEN 2A). A 41-year-old female patient was referred for further evaluation of incidentally discovered right adrenal tumor. She had bilateral adrenal pheochromocytomas and medullary thyroid carcinomas detected by endocrinological and radiological examination, and diagnosed as MEN 2A. Molecular genetic testing of the RET exons 10 and 11 exhibited the identical somatic missense mutation at codon 634 in both tumors but did not confirm germline mutations in the corresponding sites. Possible mechanisms for tumorigenesis in this patient are discussed. (Internal Medicine 38: 145-149, 1999).

Original languageEnglish
Pages (from-to)145-149
Number of pages5
JournalInternal Medicine
Volume38
Issue number2
DOIs
Publication statusPublished - 1999 Feb

Keywords

  • Hypertension
  • Multiple endocrine neoplasia (MEN) type 2A
  • Sipple's syndrome

ASJC Scopus subject areas

  • Internal Medicine

Fingerprint Dive into the research topics of 'Multiple endocrine neoplasia type 2A with the identical somatic mutation in medullary thyroid carcinoma and pheochromocytoma without germline mutation at the corresponding site in the RET proto-oncogene'. Together they form a unique fingerprint.

Cite this