Alteraciones genéticas en la citrato deshidrogenasa y otros genes en gliomas malignos

• Main Authors: VOGELSTEIN, Bert, KINZLER, Kenneth W, BIGNER, Darell, ZHANG, Xiaosong, RIGGINS, Gregory J, LIN, Jimmy Cheng-Ho, VELCULESCU, Victor, PAPADOPOULOS, Nickolas, ANGENENDT, Philipp, JONES, Sian, KUAN, Chien-Tsun, LEARY, Rebecca J, PARSONS, D. Williams, YAN, Hai, PARMIGIANI, Giovanni, KARCHIN, Rachel
• Format: Patent
• Language: Spanish
• Published: 20.04.2017
• 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

Procedimiento de caracterización de un tumor de glioblatoma multiforme (GBM) en un sujeto humano, que comprende: analizar una muestra de ensayo de un tumor GBM obtenida a partir del sujeto humano para identificar la presencia o ausencia de una mutación somática en: * el codón 132 en la isocitrato deshidrogenasa 1 (IDH1); o * el codón 172 en la isocitrato deshidrogenasa 2 (IDH2). 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.