| アイテムタイプ |
文献 / Documents(1) |
| 公開日 |
2018-05-31 |
| アクセス権 |
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アクセス権 |
open access |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 出版社版DOI |
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関連識別子 |
https://doi.org/10.1507/endocrj.42.517 |
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関連名称 |
10.1507/endocrj.42.517 |
| 出版タイプ |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
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タイトル |
Mutations in the Cysteine-Rich Region of the RET Proto-Oncogene in Patients Diagnosed as Having Sporadic Medullary Thyroid Carcinoma |
| タイトル別表記 |
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その他のタイトル |
RET MUTATIONS IN SPORADIC MTC |
| 著者 |
キムラ, タケヒコ
吉本, 勝彦
ヨコゴシ, ユタカ
齋藤, 史郎
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| 抄録 |
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内容記述 |
Medullary thyroid carcinoma (MTC) and pheochromocytoma appear in either a sporadic or a hereditary form as components of multiple endocrine neoplasia (MEN). Many germline mutations of the RET proto-oncogene have been reported in patients with MEN 2A and 2B, and familial MTC(FMTC). To elucidate the etiological roles in tumorigenesis of sporadic MTCs and pheochromocytomas, mutations in the cysteine-rich region of the RET proto-oncogene were analyzed by using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. Exons 10 and 11 were studied in genomic DNAs from 3 clinically apparent sporadic MTCs, MTCs and pheochromocytomas from 2 patients with MEN 2A, 1 with FMTC, 4 with MEN 2B, 3 with neurofibromatosis type 1(NF1), 12 sporadic pheochromocytomas and an MTC cell line, TT. All tumors from two patients with MEN 2A and one patient with FMTC had mutations at codon 618 and 634 as well as their leukocytes, reflecting their germline mutations. In this region, no mutations were detected in any tumors from patients with MEN 2B and NF1, and sporadic pheochromocytomas. But mutations were detected and identified in 3 clinically apparent sporadic MTCs and TT cells. A 6 base pair (bp) deletion causing the loss of a cysteine residue at codon 634 and a mutation causing substitution from cysteine to tyrosine at codon 634 were detected in 2 sporadic MTCs as somatic events. In a female patient diagnosed as having sporadic MTC, a mutation at codon 618 was detected not only in tumor tissues, but also in her leukocytes, suggesting a germline mutation of the RET proto-oncogene. In TT cells a heterozygous mutation at codon 634 was detected. These results suggest that RET mutations within a cysteine-rich region may also play an important role in the tumorigenesis of sporadic MTCs, and mutations of RET proto-oncogene should be screened in clinically sporadic cases to exclude hereditary MTCs. |
| キーワード |
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主題 |
RET proto-oncogene |
| キーワード |
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主題 |
Mutation |
| キーワード |
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主題 |
Sporadic MTC |
| キーワード |
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主題 |
MEN 2A |
| キーワード |
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主題 |
Genetic diagnosis |
| 書誌情報 |
en : Endocrine Journal
巻 42,
号 4,
p. 517-525,
発行日 1995
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
13484540 |
| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
09188959 |
| 収録物ID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA12020190 |
| 収録物ID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA10901436 |
| 出版者 |
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出版者 |
The Japan Endocrine Society |
| EID |
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識別子 |
71421 |
| 言語 |
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言語 |
eng |
endocrj_42_4_517.pdf (2.15 MB)
