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1. WO2020138435 - AUXILIARY DIAGNOSTIC METHOD FOR INTRAOCULAR MALIGNANT LYMPHOMA

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Publication Number WO/2020/138435
Publication Date 02.07.2020
International Application No. PCT/JP2019/051482
International Filing Date 27.12.2019
IPC
C12Q 1/6827 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
6813Hybridisation assays
6827for detection of mutation or polymorphism
C12Q 1/6844 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
6844Nucleic acid amplification reactions
C12Q 1/6876 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
CPC
C12Q 1/6827
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6813Hybridisation assays
6827for detection of mutation or polymorphism
C12Q 1/6844
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6844Nucleic acid amplification reactions
C12Q 1/6876
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
Applicants
  • 国立大学法人東京大学 THE UNIVERSITY OF TOKYO [JP]/[JP]
Inventors
  • 田岡　和城 TAOKA Kazuki
  • 唐川　綾子 KARAKAWA Ayako
Agents
  • 奥原　康司 OKUHARA Koji
  • 関本　澄人 SEKIMOTO Sumito
Priority Data
62/785,73228.12.2018US
Publication Language Japanese (JA)
Filing Language Japanese (JA)
Designated States
Title
(EN) AUXILIARY DIAGNOSTIC METHOD FOR INTRAOCULAR MALIGNANT LYMPHOMA
(FR) PROCÉDÉ DE DIAGNOSTIC AUXILIAIRE POUR UN LYMPHOME MALIN INTRAOCULAIRE
(JA) 眼内悪性リンパ腫の補助的診断法
Abstract
(EN)
The purpose of the present invention is to provide an auxiliary diagnostic method for intraocular malignant lymphomas that includes detecting an intraocular malignant lymphoma-specific gene mutation. Specifically, the present invention is an auxiliary diagnostic method for intraocular malignant lymphomas that includes, from a subject-derived sample, detecting one or more from among the gene mutations of (A) to (I) below: (A) c.586T>A mutation of CD79B; (B) c.586T>C mutation of CD79B; (C) c.587A>C mutation of CD79B; (D) c.587A>G mutation of CD79B; (E) c.133G>A mutation of BTG2; (F) c.142G>A mutation of BTG2; (G) c.794T>C mutation of MYD88; (H) c.728G>A mutation of MYD88; and (I) c.550C>T mutation of PIM1.
(FR)
La présente invention a pour but de fournir un procédé de diagnostic auxiliaire pour des lymphomes malins intraoculaires comprenant la détection d'une mutation génétique spécifique d'un lymphome malin intraoculaire. Plus particulièrement, la présente invention concerne un procédé de diagnostic auxiliaire pour des lymphomes malins intraoculaires comprenant, à partir d'un échantillon issu d'un sujet, la détection d'une ou plusieurs mutations géniques parmi (A) à (I) ci-dessous : (A) c.586T>A Une mutation de CD79B; (B) c.586T>C Une mutation de CD79B; (C) c.587A>C Une mutation de CD79B; (D) c.587A>G Une mutation de CD79B; (E) c.133G>A Une mutation de BTG2; (F) c.142G>A Une mutation de BTG2; (G) c.794T> C Une mutation de MYD88; (H) c.728G>A Une mutation de MYD88; et (I) c.550C>T Une mutation de PIM1.
(JA)
本発明は、眼内悪性リンパ腫に特異的な遺伝子変異を検出することを含む、眼内悪性リンパ種の診断を補助する方法の提供を目的とする。具体的には、本発明は、被験者由来の検体において、以下の（Ａ）ないし（Ｉ）のいずれかの遺伝子変異の1または複数を検出することを含む、眼内悪性リンパ種の診断を補助する方法である。 （Ａ）CD79Bのc.586T>A変異、 （Ｂ）CD79Bのc.586T>C変異、 （Ｃ）CD79Bのc.587A>C変異、 （Ｄ）CD79Bのc.587A>G変異、 （Ｅ）BTG2のc.133G>A変異、 （Ｆ）BTG2のc.142G>A変異、 （Ｇ）MYD88のc.794T>C変異、 （Ｈ）MYD88のc.728G>A変異、および （Ｉ）PIM1のc.550C>T変異
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