DK2546365T3 - Genetiske forandringer af isocitratdehydrogenase og andre gener i ondartet gliom - Google Patents

Genetiske forandringer af isocitratdehydrogenase og andre gener i ondartet gliom Download PDF

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DK2546365T3
DK2546365T3 DK12188429.0T DK12188429T DK2546365T3 DK 2546365 T3 DK2546365 T3 DK 2546365T3 DK 12188429 T DK12188429 T DK 12188429T DK 2546365 T3 DK2546365 T3 DK 2546365T3
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Denmark
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idh2
idh1
idhi
gly
codon
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DK12188429.0T
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English (en)
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Bert Vogelstein
Xiaosong Zhang
Jimmy Cheng-Ho Lin
Rebecca Leary
Philipp Angenendt
Nickolas Papadopoulos
Victor Velculescu
Rachel Karchin
Sian Jones
Hai Yan
Darell Bigner
Chien-Tsun Kuan
Gregory Riggins
Kenneth Kinzler
Williams Parsons
Giovanni Parmigiani
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Univ Johns Hopkins
Univ Duke
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00—Antineoplastic agents
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P37/00—Drugs for immunological or allergic disorders
    • A61P37/02—Immunomodulators
    • A61P37/04—Immunostimulants
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/112—Disease subtyping, staging or classification
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/118—Prognosis of disease development
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/136—Screening for pharmacological compounds
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data analysis

Claims (14)

1. Fremgangsmåde til at karakterisere en tumor valgt fra gruppen bestående af diffust astrocytom, oligoastrocytom, anaplastisk astrocytom, anaplastisk oligoastrocytom, oligodendrogliom, pleomorft xanthoastrocytom, og anaplastisk oligodendrogliom i en prøve isoleret fra en human patient som har en tumor, omfattende: at analysere prøven for isocitratdehydrogenase 1 (IDHI) eller isocitratdehydrogenase 2 (IDH2) gen eller mRNA transkriberet fra genet hos den humane patient eller proteinet translateret fra mRNA, for at identificere rest 132 eller et kodon for rest 132 af IDHI eller rest 172 eller et kodon for rest 172 af IDH2, hvor en mutation er identificeret hvis resten eller kodonet for resten andet end arginin identificeres.
2. Fremgangsmåde ifølge krav 1 hvor IDHI genet analyseres og mutationen er identificeret hvis en rest eller et kodon for en rest valgt fra gruppen bestående af Histidin, Serin, Cystein, Leucin, og Glycin idenficeres i kodon eller rest 132 af IDHI.
3. Fremgangsmåde ifølge krav 1 hvor IDH2 genet analyseres og en mutation er identificeret hvis en rest eller et kodon for en rest valgt fra gruppen bestående af Lysin, Glycin, og Methionin identificeres i kodon eller rest 172 af IDH2.
4. Fremgangsmåde ifølge krav 1 hvor prøven er valgt fra gruppen bestående af tumor, blod, plasma, serum, cerebrospinalvæske, urin, spyt, og lymfevæske.
5. Fremgangsmåde ifølge krav 1 hvor den humane patient har en tumor valgt fra gruppen bestående af diffust astrocytom, oligoastrocytom, anaplastisk oligoastrocytom, oligodendrogliom og anaplastisk oligodendrogliom.
6. Fremgangsmåde ifølge krav 5 endvidere omfattende trinnet: at fastsætte en mere favorabel prognose (længere forventet levetid) når den somatiske mutation er til stede eller en mindre favorabel prognose (kortere forventet levetid) når den somatiske mutation er fraværende.
7. Fremgangsmåde ifølge krav 1 hvor analysetrinnet omfatter at amplificere mindst en del af: • IDHI genet eller cDNA af IDHI mRNA, idet delen omfatter kodon 132 eller nukleotid 394 eller 395 af IDHI transkript; eller • IDH2 genet eller cDNA af IDH2 mRNA, idet delen omfatter kodon 172 eller nukleotid 515 af IDH2 transkript.
8. Fremgangsmåde ifølge krav 1 hvor analysetrinnet anvender: et antistof der specifikt binder til isocitratdehydrogenase 1 (IDHI), til isocitratdehydrogenase 2 (IDH2), eller til både IDHI og IDH2; eller et antistof der fortrinsvis binder til en eller flere af R132H, R132C, R132S, R132L, og R132G, af isocitratdehydrogenase 1 (IDHI) og R172M, R172G, og R172K af IDH2, i forhold til R132 IDHI eller R172 IDH2.
9. Fremgangsmåde ifølge krav 1 hvor analysetrinnet anvender hybridisering afen oligonukleotidprøve omfattende: • IDHI kodon 132 eller nukleotid 394 eller 395 af IDHI transkript plus tilstrækkelige tilstødende nukleotider af IDHI til at opnå specifik hybridisering; eller • IDH2 kodon 172 eller nukleotid 515 af IDH2 transkript plus tilstrækkelige tilstødende nukleotider af IDH2 til at opnå specifik hybridisering.
10. Fremgangsmåde ifølge krav 9 hvor kodonet er et argininkodon.
11. Fremgangsmåde ifølge krav 9 hvor kodonet ikke er et argininkodon.
12. Fremgangsmåde ifølge krav 1 hvor analysetrinnet omfatter anvendelse af primerforlængelse for at danne et reaktionsprodukt omfattende mindst en del af: • IDHI der inkluderer kodon 132 eller nukleotid 394 eller 395 af IDHI transkript; eller • IDH2 der inkluderer kodon 172 eller nukleotid 515 af IDH2 transkript.
13. Isoleret antistof som specifikt binder til et eller flere af følgende: • R132H IDHI, eller R132C IDHI, eller R132S IDHI, eller R132L IDHI, eller R132G IDHI, men ikke R132 IDHI; eller • R172M IDH2, R172G IDH2, eller R172K af IDH2, men ikke R172 IDH2, hvor antistoffet eventuelt er enten et monoklont antistof; eller et enkeltkæde variabel region molekyle .
14. Isoleret polynukleotid omfattende mindst 18 men færre end 600 fortløbende nukleotidrester af en kodende sekvens af et humant IDHI eller IDH2 protein fundet i en human tumor, idet de mindst 18 fortløbende aminosyrerester omfatter: • nukleotider 394 og/eller 395 af IDHI, hvor nukleotiderne 394 og/eller 395 ikke er C og/eller G, respektivt; • nukleotid 515 af IDH2, hvor nukleotidet 515 ikke er et G, eller komplementet af det isolerede polynukleotid; hvor den kodende sekvens eventuelt er enten: et humant IDHI protein og nukleotidet 394 er valgt fra gruppen bestående af A og G eller nukleotid 395 er valgt fra gruppen bestående af A og T; eller et humant IDH2 protein og nukleotidet 515 er valgt fra gruppen bestående af T og A eller nukleotid 514 er et G.
DK12188429.0T 2008-09-03 2009-09-03 Genetiske forandringer af isocitratdehydrogenase og andre gener i ondartet gliom DK2546365T3 (da)

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US9373908P 2008-09-03 2008-09-03
US11039708P 2008-10-31 2008-10-31
US16273709P 2009-03-24 2009-03-24
EP09792198.5A EP2326735B1 (en) 2008-09-03 2009-09-03 Genetic alterations in isocitrate dehydrogenase and other genes in malignant glioma

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EP (4) EP3266879B1 (da)
JP (3) JP5421374B2 (da)
CN (1) CN102177251B (da)
AU (1) AU2009288004B2 (da)
CA (1) CA2736125C (da)
DK (2) DK2326735T3 (da)
ES (3) ES2608310T3 (da)
MX (3) MX2011002409A (da)
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WO (1) WO2010028099A1 (da)

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