公开(公告)号：US20120202207A1

公开(公告)日：2012-08-09

申请号：US13412696

申请日：2012-03-06

申请人： Bert VOGELSTEIN ,  Kenneth W. KINZLER ,  D. Williams PARSONS ,  Xiaosong ZHANG ,  Jimmy Cheng-Ho LIN ,  Rebecca J. LEARY ,  Philipp ANGENENDT ,  Nickolas PAPADOPOULOS ,  Victor VELCULESCU ,  Giovanni PARMIGIANI ,  Rachel KARCHIN ,  Sian JONES ,  Hai YAN ,  Darell BIGNER ,  Chien-Tsun KUAN ,  Gregory J. RIGGINS

发明人： Bert VOGELSTEIN ,  Kenneth W. KINZLER ,  D. Williams PARSONS ,  Xiaosong ZHANG ,  Jimmy Cheng-Ho LIN ,  Rebecca J. LEARY ,  Philipp ANGENENDT ,  Nickolas PAPADOPOULOS ,  Victor VELCULESCU ,  Giovanni PARMIGIANI ,  Rachel KARCHIN ,  Sian JONES ,  Hai YAN ,  Darell BIGNER ,  Chien-Tsun KUAN ,  Gregory J. RIGGINS

IPC分类号： C12Q1/68 ,  C07K16/40 ,  C07H21/04 ,  G01N33/574

CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156

摘要： We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas.

摘要翻译： 我们发现大多数II级和III级星形细胞瘤和少突胶质细胞瘤中异柠檬酸脱氢酶1（IDH1）的R132残基突变以及从这些较低级别病变发展的成胶质细胞瘤。 那些没有IDH1突变的肿瘤在紧密相关的IDH2基因的类似R172残基中经常具有突变。 这些发现对恶性胶质瘤的发病机制和诊断具有重要意义。