Isolated intestinal ganglioneuromatosis with a new mutation of RET proto-oncogene

被引：12
|
作者：
Nguyen, An T. T.
Zacharin, Margaret R.
Smith, Margaret
Hardikar, Winita
机构：
[1] Royal Childrens Hosp, Dept Gastroenterol & Clin Nutr, Parkville, Vic 3052, Australia
[2] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Parkville, Vic 3052, Australia
[3] Royal Childrens Hosp, Dept Endocrinol & Diabet, Parkville, Vic 3052, Australia
[4] Royal Childrens Hosp, Dept Gastroenterol, Parkville, Vic 3052, Australia
[5] Murdoch Childrens Res Inst, Ctr Hormone Res, Parkville, Vic 3052, Australia
[6] Royal Melbourne Hosp, Dept Pathol, Melbourne, Vic 3050, Australia
来源：
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY | 2006年 / 18卷 / 07期
关键词：
ganglioneuromatosis; multiple endocrine neoplasia; RET proto-oncogene;
D O I：
10.1097/01.meg.0000224473.66675.ad
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
A 13-year-old boy with a history of juvenile polyps of the colon was subsequently found to have isolated intestinal ganglioneuromatosis without any other features characteristic of multiple endocrine neoplasia (MEN) 2B. Screening for MEN 2B revealed a polymorphism of the RET proto-oncogene at codon 691 with a glycine to serine conversion. This mutation has not been described before in association with ganglioneuromatosis and MEN 2B. The phenotype and presentation are compared with those of previous case reports.
引用
收藏
页码：803 / 805
页数：3
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