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在一名患有维德曼-贝克威思综合征的成年人的肾上腺腺瘤中,11号染色体短臂上的c-Ha-ras-1基因座出现纯合性。

Generation of homozygosity at the c-Ha-ras-1 locus on chromosome 11p in an adrenal adenoma from an adult with Wiedemann-Beckwith syndrome.

作者信息

Hayward N K, Little M H, Mortimer R H, Clouston W M, Smith P J

机构信息

Queensland Institute of Medical Research, Brisbane, Australia.

出版信息

Cancer Genet Cytogenet. 1988 Jan;30(1):127-32. doi: 10.1016/0165-4608(88)90100-8.

Abstract

Generation of homozygosity for the human c-Ha-ras-1 locus on the short arm of chromosome #11 (11p) has been demonstrated for an adrenal adenoma from an adult with Wiedemann-Beckwith syndrome (WBS). This is the first demonstration of loss of somatic heterozygosity for a locus on 11p in an adrenal neoplasm and is the first instance where a tumor of any type, from a patient with WBS, shows loss of heterozygosity in this region of the genome. Generation of homozygosity in an adenoma, rather than a carcinoma, demonstrates that this mechanism is an early event in tumorigenesis rather than a late event associated with tumor progression.

摘要

在一名患有威德曼-贝克威思综合征(WBS)的成年人的肾上腺腺瘤中,已证实11号染色体短臂(11p)上的人类c-Ha-ras-1基因座出现纯合性。这是肾上腺肿瘤中首次证明11p上一个基因座的体细胞杂合性缺失,也是首例来自WBS患者的任何类型肿瘤在该基因组区域出现杂合性缺失的情况。腺瘤而非癌中出现纯合性,表明这种机制是肿瘤发生的早期事件,而非与肿瘤进展相关的晚期事件。

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