GENETIC ALTERATIONS IN ISOCITRATE DEHYDROGENASE AND OTHER GENES IN MALIGNANT GLIOMA

• Main Authors: REBECCA J. LEARY, HAI YAN, JIMMY CHENG-HO LIN, PHILIPP ANGENENDT, XIAOSONG ZHANG, RACHEL KARCHIN, KENNETH W. KINZLER, SIAN JONES, DARELL BIGNER, CHIEN-TSUN KUAN, BERT VOGELSTEIN, D. WILLIAMS PARSONS, VICTOR VELCULESCU, NICKOLAS PAPADOPOULOS, GIOVANNI PARMIGIANI, GREGORY RIGGINS
• Format: Patent
• Language: English; Spanish
• Published: 28.10.2016
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

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. La presente invención se refiere a un método para detectar la presencia o ausencia de una mutación somática en el codón 132 en isocitrato deshidrogenasa 1 (IDH1) o el codón 172 en isocitrato deshidrogenasa 2 (IDH2) en una muestra de tumor seleccionado del grupo que consiste de astrocitoma difuso, oligoastrocitoma, astrocitoma anaplástico, oligoastrocitoma anaplásico, oligodendroglioma, y oligodendroglioma anaplástico de un sujeto humano, caracterizado porque comprende: analizar la muestra para el gen IDH1 o IDH2 o ARNm transcrita del gen en el sujeto humano o la proteína traducida del ARNm, para identificar el residuo 132 o un codón para el residuo 132 de IDH1 o el residuo 172 o un codón para el residuo 172 de IDH2, en donde una mutación se identifica si el residuo o el codón para el residuo se identifica diferente de la arginina.