ID | 111690 |
タイトル別表記 | RET MUTATIONS IN PHEOCHROMOCYTOMAS
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著者 |
Hamaguchi, Sachiko
The University of Tokushima
Kimura, Takehiko
The University of Tokushima
Iwahana, Hiroyuki
The University of Tokushima
Miyauchi, Akira
Kagawa Medical School
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キーワード | RET proto-oncogene
Mutation
Pheochromocytoma
MEN 2A
MEN 2B
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資料タイプ |
学術雑誌論文
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抄録 | 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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掲載誌名 |
Endocrine Journal
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ISSN | 13484540
09188959
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cat書誌ID | AA12020190
AA10901436
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出版者 | The Japan Endocrine Society
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巻 | 42
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号 | 2
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開始ページ | 265
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終了ページ | 270
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発行日 | 1995
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EDB ID | |
出版社版DOI | |
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フルテキストファイル | |
言語 |
eng
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著者版フラグ |
出版社版
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部局 |
歯学系
先端酵素学研究所
病院
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