CN107002131B - 作为确认骨髓增生异常综合征诊断的可靠测试的外周血血浆dna深度测序 - Google Patents

作为确认骨髓增生异常综合征诊断的可靠测试的外周血血浆dna深度测序 Download PDF

Info

Publication number
CN107002131B
CN107002131B CN201580061352.0A CN201580061352A CN107002131B CN 107002131 B CN107002131 B CN 107002131B CN 201580061352 A CN201580061352 A CN 201580061352A CN 107002131 B CN107002131 B CN 107002131B
Authority
CN
China
Prior art keywords
dna
mds
cell
peripheral blood
patient
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Active
Application number
CN201580061352.0A
Other languages
English (en)
Chinese (zh)
Other versions
CN107002131A (zh
Inventor
M·阿尔比塔
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
NeoGenomics Laboratories Inc
Original Assignee
NeoGenomics Laboratories Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by NeoGenomics Laboratories Inc filed Critical NeoGenomics Laboratories Inc
Publication of CN107002131A publication Critical patent/CN107002131A/zh
Application granted granted Critical
Publication of CN107002131B publication Critical patent/CN107002131B/zh
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

Classifications

    • 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
    • C12Q1/6869—Methods for sequencing
    • C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/686—Polymerase chain reaction [PCR]
    • 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
    • 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
    • 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
    • C12Q2600/158—Expression markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Genetics & Genomics (AREA)
  • Immunology (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pathology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
CN201580061352.0A 2014-11-12 2015-11-11 作为确认骨髓增生异常综合征诊断的可靠测试的外周血血浆dna深度测序 Active CN107002131B (zh)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201462078921P 2014-11-12 2014-11-12
US62/078,921 2014-11-12
US201462083432P 2014-11-24 2014-11-24
US62/083,432 2014-11-24
PCT/US2015/060061 WO2016077408A1 (en) 2014-11-12 2015-11-11 Deep sequencing of peripheral blood plasma dna is reliable for confirming the diagnosis of myelodysplastic syndrome

Publications (2)

Publication Number Publication Date
CN107002131A CN107002131A (zh) 2017-08-01
CN107002131B true CN107002131B (zh) 2022-04-29

Family

ID=55911759

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201580061352.0A Active CN107002131B (zh) 2014-11-12 2015-11-11 作为确认骨髓增生异常综合征诊断的可靠测试的外周血血浆dna深度测序

Country Status (6)

Country Link
US (1) US10604801B2 (enExample)
EP (1) EP3218520B1 (enExample)
JP (1) JP2017533714A (enExample)
CN (1) CN107002131B (enExample)
AU (1) AU2015346487B2 (enExample)
WO (1) WO2016077408A1 (enExample)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
IT201700045353A1 (it) * 2017-04-26 2018-10-26 Bioscience Services S R L Metodo per la ricerca e l'individuazione di una condizione genetica prodromica all'insorgenza di tumori solidi
CN108251527A (zh) * 2017-12-29 2018-07-06 天津协和华美医学诊断技术有限公司 一种检测淋巴瘤相关基因群的检测试剂盒
KR102080161B1 (ko) * 2018-02-01 2020-02-21 사회복지법인 삼성생명공익재단 개인 맞춤형 의료를 위한 유전자 패널, 그를 구성하는 방법, 및 그를 이용한 개인 맞춤형 치료 방법
EP4055187B1 (en) * 2019-11-06 2025-08-20 The Board of Trustees of the Leland Stanford Junior University Methods for analyzing nucleic acid molecules
WO2022186673A1 (ko) * 2021-03-05 2022-09-09 전남대학교산학협력단 차세대 염기서열분석 기반 표적유전자 rna 염기서열 분석 패널 및 분석알고리즘
CN113764038B (zh) * 2021-08-31 2023-08-22 华南理工大学 构建骨髓增生异常综合征转白基因预测模型的方法

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN1814792A (zh) * 2005-02-02 2006-08-09 苏州大学附属第一医院 实时定量pcr检测人ddit3转录本试剂盒
WO2011098901A1 (en) * 2010-02-12 2011-08-18 Ipsogen Asxl1 as a new diagnostic marker of myeloid neoplasms
WO2013159035A2 (en) * 2012-04-19 2013-10-24 Medical College Of Wisconsin, Inc. Highly sensitive surveillance using detection of cell free dna
CN103451314A (zh) * 2013-09-30 2013-12-18 南京艾迪康医学检验所有限公司 检测idh1、idh2基因多态突变位点的引物、方法和试剂盒

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2012271386A1 (en) * 2011-06-17 2014-01-16 Dana-Farber Cancer Institute, Inc. Mutation signatures for predicting the survivability of Myelodysplastic Syndrome subjects

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN1814792A (zh) * 2005-02-02 2006-08-09 苏州大学附属第一医院 实时定量pcr检测人ddit3转录本试剂盒
WO2011098901A1 (en) * 2010-02-12 2011-08-18 Ipsogen Asxl1 as a new diagnostic marker of myeloid neoplasms
WO2013159035A2 (en) * 2012-04-19 2013-10-24 Medical College Of Wisconsin, Inc. Highly sensitive surveillance using detection of cell free dna
CN103451314A (zh) * 2013-09-30 2013-12-18 南京艾迪康医学检验所有限公司 检测idh1、idh2基因多态突变位点的引物、方法和试剂盒

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
Molecular and genetic features of myelodysplastic syndromes;P. L. GREENBERG 等;《International journal of laboratory hematology》;20111227;第34卷(第3期);第215-222页 *
Molecular profiling in diagnosis and determing prognosis of "early" myelodysplastic syndrome;M. Thangavelu 等;《The 64th annual Meeting of The American Society of Human Genetics》;20141019;第871页左栏 *
Prognostic score including gene mutations in chronic myelomonocytic leukemia;ITZYKSON R 等;《J. CLINICAL ONCOLOGY》;20130701;第31卷;第2428-2436页 *

Also Published As

Publication number Publication date
US10604801B2 (en) 2020-03-31
US20160130648A1 (en) 2016-05-12
AU2015346487A1 (en) 2017-05-11
JP2017533714A (ja) 2017-11-16
EP3218520B1 (en) 2023-09-20
EP3218520A1 (en) 2017-09-20
CN107002131A (zh) 2017-08-01
AU2015346487B2 (en) 2022-01-27
EP3218520A4 (en) 2018-04-11
WO2016077408A1 (en) 2016-05-19

Similar Documents

Publication Publication Date Title
US11613786B2 (en) Clonal haematopoiesis
Ye et al. Liquid biopsy in hepatocellular carcinoma: circulating tumor cells and circulating tumor DNA
JP7531217B2 (ja) 癌を査定および／または処置するためのセルフリーｄｎａ
CN107002131B (zh) 作为确认骨髓增生异常综合征诊断的可靠测试的外周血血浆dna深度测序
Simen et al. Validation of a next-generation–sequencing cancer panel for use in the clinical laboratory
CN113284554A (zh) 一种筛查结直肠癌术后微小残留病灶及预测复发风险的循环肿瘤dna检测系统及应用
EP4488383A2 (en) Methods for assessing risk using total and specific cell-free dna
WO2018090298A2 (en) Systems and methods for monitoring lifelong tumor evolution
CN111094593A (zh) 使用供体特异性无细胞dna来评估移植对象中的病症
Bartels et al. Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms
EP3117012A1 (en) Methods of monitoring immunosuppressive therapies in a transplant recipient
EP2986735A2 (en) Method for identifying the quantitative cellular composition in a biological sample
CN104694663A (zh) Brca基因易感snp位点检测组合物
US20250297320A1 (en) Methylation signatures in cell-free dna for tumor classification and early detection
EP3818179B1 (en) Epigenetic method to detect and distinguish ipex and ipex-like syndromes, in particular in newborns
WO2014190927A1 (zh) 胰腺神经内分泌肿瘤易感基因位点及检测方法和试剂盒
WO2017106365A1 (en) Methods for measuring mutation load
KR102010899B1 (ko) 차세대서열분석 스크리닝을 통해 발굴한 단일염기다형성에 의한 염증성 장질환의 예측 또는 진단에 관한 정보 제공 방법
CN113061658A (zh) 用于乳腺癌遗传筛查的基因及其应用
JP6108571B2 (ja) 食道癌の発症リスクを判定する方法及びキット
Ferreira et al. Diagnosis and Follow Up
Fujiwara et al. Analysis of the MYD88 L265P mutation in IgM monoclonal gammopathy by semi-nested polymerase chain reaction-based restriction fragment length polymorphism method
WO2024262348A1 (ja) 遺伝子変異を伴う異常細胞の新規検出法
Yuan Analysis of somatic copy number alterations in liquid biopsies from cancer patients
Ip et al. Molecular Techniques in the Diagnosis and Monitoring of Acute and Chronic Leukaemias

Legal Events

Date Code Title Description
PB01 Publication
PB01 Publication
SE01 Entry into force of request for substantive examination
SE01 Entry into force of request for substantive examination
GR01 Patent grant
GR01 Patent grant