GENETIC ALTERATIONS IN ISOCITRATE DEHYDROGENASE AND OTHER GENES IN MALIGNANT GLIOMA

• Main Authors: VELCULESCU, VICTOR, JONES, SIAN, PARSONS, D. WILLIAMS, ANGENENDT, PHILIPP, KUAN, CHIEN-TSUN, YAN, HAI, BIGNER, DARELL, LEARY, REBECCA J, PARMIGIANI, GIOVANNI, KARCHIN, RACHEL, PAPADOPOULOS, NICKOLAS, RIGGINS, GREGORY J, LIN, JIMMY CHENG-HO, KINZLER, KENNETH W, VOGELSTEIN, BERT, ZHANG, XIAOSONG
• Format: Patent
• Language: English; French
• Published: 09.04.2019
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS THEREOF; CULTURE MEDIA; ENZYMOLOGY; HUMAN NECESSITIES; HYGIENE; INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES; MEASURING; MEDICAL OR VETERINARY SCIENCE; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; ORGANIC CHEMISTRY; PEPTIDES; PHYSICS; PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; TESTING; 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 with-out 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. Linvention concerne la découverte de mutations du résidu R132 de lisocitrate déshydrogénase 1 (IDH1) dans la majorité des astrocytomes et oligodendrogliomes de grade II et de grade III, ainsi que dans les glioblastomes se développant à partir de ces lésions de grade inférieur. Ces tumeurs sans mutation dans IDH1 présentent souvent des mutations au niveau du résidu analogue R172 du gène IDH2 étroitement apparenté. Ces découvertes ont des implications importantes pour la pathogénèse et le diagnostic des gliomes malins.