Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.
Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.
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DOI：
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发表时间：
1999
期刊：
影响因子：
11.2
通讯作者：
J. Biegel;Jun Zhou;L. Rorke;C. Stenstrom;L. Wainwright;Benjamin Fogelgren
中科院分区：
文献类型：
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作者：
J. Biegel;Jun Zhou;L. Rorke;C. Stenstrom;L. Wainwright;Benjamin Fogelgren
我们检查了脑的18种非典型特性霉菌和横纹肌肿瘤，以及7个肾牙和4个外胸腺外瘤肿瘤，用于候选的肉骨毒性肿瘤抑制基因Ini1中的突变。 15个肿瘤对INI1基因的一个或多个外显子的纯合缺失，其他14个肿瘤显示突变。在四个儿童中鉴定出INI1的种系突变，一个患有非典型的脑肿瘤，三个患有肾横纹肌肿瘤。这些研究表明，INI1是参与大脑，肾脏和其他外部部位的横纹肌肿瘤的肿瘤抑制基因。
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.