Biegel J A, Zhou J Y, Rorke L B, Stenstrom C, Wainwright L M, Fogelgren B
The Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, 19104, USA.
Cancer Res. 1999 Jan 1;59(1):74-9.
We examined 18 atypical teratoid and rhabdoid tumors of the brain and 7 renal and 4 extrarenal rhabdoid tumors for mutations in the candidate rhabdoid tumor suppressor gene, INI1. Fifteen tumors had homozygous deletions of one or more exons of the INI1 gene, and the other 14 tumors demonstrated mutations. Germ-line mutations of INI1 were identified in four children, one with an atypical teratoid tumor of the brain and three with renal rhabdoid tumors. These studies suggest that INI1 is a tumor suppressor gene involved in rhabdoid tumors of the brain, kidney, and other extrarenal sites.
我们检测了18例脑非典型畸胎样和横纹肌样肿瘤、7例肾横纹肌样肿瘤以及4例肾外横纹肌样肿瘤，以寻找候选横纹肌样肿瘤抑制基因INI1的突变情况。15例肿瘤存在INI1基因一个或多个外显子的纯合缺失，另外14例肿瘤显示有突变。在4名儿童中鉴定出INI1的胚系突变，其中1名患有脑非典型畸胎样肿瘤，3名患有肾横纹肌样肿瘤。这些研究表明，INI1是一种参与脑、肾及其他肾外部位横纹肌样肿瘤发生的肿瘤抑制基因。
