Multiple endocrine neoplasia type 2B

被引：2
|
作者：
Nakata, S
Okugi, H
Saitoh, Y
Takahashi, H
Shimizu, K
机构：
[1] Ashikaga Red Cross Hosp, Dept Urol, Ashikaga, Tochigi 3260808, Japan
[2] Ashikaga Red Cross Hosp, Dept Pathol, Ashikaga, Tochigi 3260808, Japan
来源：
INTERNATIONAL JOURNAL OF UROLOGY | 2001年 / 8卷 / 07期
关键词：
hereditary disease; medullary thyroid carcinoma; multiple endocrine neoplasia type 2B; pheochromocytoma;
D O I：
10.1046/j.1442-2042.2001.00320.x
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
We report a case of multiple endocrine neoplasia type 2B (MEN 2B) in a 30-year-old woman. There was no family history of MEN 2B in her family. DNA testing was carried Out and a point mutation was found in exon 16, codon 918 (ATG to ACG) in the RET proto-oncogene. The woman died of medullary thyroid carcinoma, 13 years after a total thyroidectomy.
引用
收藏
页码：398 / 400
页数：3
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