ID 111690
Title Alternative
RET MUTATIONS IN PHEOCHROMOCYTOMAS
Author
Tanaka, Chisato The University of Tokushima KAKEN Search Researchers
Hamaguchi, Sachiko The University of Tokushima
Kimura, Takehiko The University of Tokushima
Iwahana, Hiroyuki The University of Tokushima
Miyauchi, Akira Kagawa Medical School
Keywords
RET proto-oncogene
Mutation
Pheochromocytoma
MEN 2A
MEN 2B
Content Type
Journal Article
Description
Sporadic pheochromocytomas, sporadic medullary thyroid carcinomas (MTCs), pheochromocytomas and/or MTCs in multiple endocrine neoplasia (MEN) 2A or 2B were screened for mutations in the tyrosine kinase domain of the RET proto-oncogene by direct sequencing of PCR-amplified products or sequencing subcloned DNAs from PCR-products. All tumors of 4 MEN 2B patients were confirmed to contain a heterozygous missense mutation at codon 918 (ATG→ACG; Met→Thr) of the RET proto-oncogene as well as their leukocytes. The same tumor-specific mutations at codon 918 were also found in 5/16 (31%) sporadic pheochromocytomas. These results suggest that mutations of the RET proto-oncogene in its tyrosine kinase domain play a role not only as the predisposing gene for MEN 2B, but also as a tumorigenic factor for pheochromocytomas of sporadic type.
Journal Title
Endocrine Journal
ISSN
13484540
09188959
NCID
AA12020190
AA10901436
Publisher
The Japan Endocrine Society
Volume
42
Issue
2
Start Page
265
End Page
270
Published Date
1995
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Oral Sciences
Institute of Advanced Medical Sciences
University Hospital