直近一年間の累計
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ID 111687
タイトル別表記
A KINDRED OF MEN 2B
著者
Yamamoto, Shigeki University of Occupational and Environmental Health
Morimoto, Isao University of Occupational and Environmental Health
Fujihira, Takashi University of Occupational and Environmental Health
Watanabe, Kenichi University of Occupational and Environmental Health
Zeki, Kazuya University of Occupational and Environmental Health
Zeze, Fujio University of Occupational and Environmental Health
Eto, Sumiya University of Occupational and Environmental Health
キーワード
Multiple endocrine neoplasia (MEN) 2B
Medullary thyroid carcinoma (MTC)
Pheochromocytoma
資料タイプ
学術雑誌論文
抄録
We describe familial cases of multiple endocrine neoplasia (MEN) 2B: A 48-year-old man is the proband. He had pheochromocytoma, medullary thyroid carcinomas (MTCs), parathyroid hyperplasia, mucosal neuromas, eversion of eyelids and Marfanoid appearance, and then underwent adrenalectomy and total thyroidectomy. Family screening revealed that his two daughters (10 and 8 years old) had mucosal neuromas and increased serum calcitonin (CT). Both of them had MTCs but no pheochromocytoma, and their MTCs were surgically removed. The father and his children have been in favorable condition since the operations. Southern blot analysis with 33 polymorphic DNA probes was done in MTCs obtained from two daughters. An RBP3 (10q11.2) locus linked to a predisposing gene on chromosome 10 was uninformative in either patient because of constitutional homozygosity. Loss of heterozygosity at the MYCL1 locus on chromosome 1p32 was observed in MTC from the younger sister, but no loss of heterozygosity was recognized in other loci examined. Deletion of the 1p32 locus may play a role in the development of MEN 2B.
掲載誌名
Endocrinologia Japonica
ISSN
21856370
00137219
cat書誌ID
AA00635052
出版者
The Japan Endocrine Society
39
1
開始ページ
25
終了ページ
30
発行日
1992
EDB ID
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
歯学系