Eyelid myxoma in carney complex without PRKAR1A allelic loss

被引：23
|
作者：
Tsilou, ET
Chan, CC
Sandrini, F
Rubin, BI
Shen, DF
Carney, JA
Kaiser-Kupfer, M
Stratakis, CA
机构：
[1] NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA
[2] NEI, Immunol Lab, NIH, Bethesda, MD 20892 USA
[3] NICHD, Sect Endocrinol & Genet, Dev Endocrinol Branch, NIH, Bethesda, MD USA
[4] Mayo Clin, Rochester, MN USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 130A卷 / 04期
关键词：
multiple endocrine neoplasia; loss of heterozygosity;
D O I：
10.1002/ajmg.a.30279
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Eyelid nodules were investigated in a patient with Carney complex who was heterozygous for the most commonly known PRKAR1A-inactivating mutation, c.578delTG. Immunohistochemical studies confirmed the diagnosis of myxoma. Loss of heterozygosity was not present, suggesting that haploinsufficiency alone was responsible for tumorigenesis of this eyelid lesion. Published 2004 Wiley-Liss, Inc.(dagger)
引用
收藏
页码：395 / 397
页数：3
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