ID 111687
Title Alternative
A KINDRED OF MEN 2B
Author
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
Keywords
Multiple endocrine neoplasia (MEN) 2B
Medullary thyroid carcinoma (MTC)
Pheochromocytoma
Content Type
Journal Article
Description
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.
Journal Title
Endocrinologia Japonica
ISSN
21856370
00137219
NCID
AA00635052
Publisher
The Japan Endocrine Society
Volume
39
Issue
1
Start Page
25
End Page
30
Published Date
1992
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Oral Sciences