ID | 111690 |
Title Alternative | RET MUTATIONS IN PHEOCHROMOCYTOMAS
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Author |
Yoshimoto, Katsuhiko
The University of Tokushima
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Hamaguchi, Sachiko
The University of Tokushima
Kimura, Takehiko
The University of Tokushima
Iwahana, Hiroyuki
The University of Tokushima
Miyauchi, Akira
Kagawa Medical School
Itakura, Mitsuo
The University of Tokushima
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Keywords | RET proto-oncogene
Mutation
Pheochromocytoma
MEN 2A
MEN 2B
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Content Type |
Journal Article
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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.
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Journal Title |
Endocrine Journal
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ISSN | 13484540
09188959
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NCID | AA12020190
AA10901436
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Publisher | The Japan Endocrine Society
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Volume | 42
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Issue | 2
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Start Page | 265
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End Page | 270
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Published Date | 1995
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EDB ID | |
DOI (Published Version) | |
URL ( Publisher's Version ) | |
FullText File | |
language |
eng
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TextVersion |
Publisher
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departments |
Oral Sciences
Institute of Advanced Medical Sciences
University Hospital
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