DK2524058T3 - Mutationer i lnk genet i patienter med myeloproliferativ neoplasi og andre hæmatolymfoide maligniteter - Google Patents

Mutationer i lnk genet i patienter med myeloproliferativ neoplasi og andre hæmatolymfoide maligniteter Download PDF

Info

Publication number
DK2524058T3
DK2524058T3 DK11733318.7T DK11733318T DK2524058T3 DK 2524058 T3 DK2524058 T3 DK 2524058T3 DK 11733318 T DK11733318 T DK 11733318T DK 2524058 T3 DK2524058 T3 DK 2524058T3
Authority
DK
Denmark
Prior art keywords
lnk
mutation
sequence
hematolymphoid
jak2
Prior art date
Application number
DK11733318.7T
Other languages
English (en)
Inventor
Jason Robert Gotlib
Garry P Nolan
James L Zehnder
Stephen Tracy Oh
Original Assignee
Univ Leland Stanford Junior
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 Univ Leland Stanford Junior filed Critical Univ Leland Stanford Junior
Application granted granted Critical
Publication of DK2524058T3 publication Critical patent/DK2524058T3/da

Links

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
    • C12Q1/6876—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
    • A61P35/00—Antineoplastic agents
    • A61P35/02—Antineoplastic agents specific for leukemia
    • 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

Landscapes

  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Oncology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Molecular Biology (AREA)
  • Hospice & Palliative Care (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Hematology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Claims (11)

1 MUTATIONER I LNK GENET I PATIENTER MED MYE LO PRO LI FE RATI V NEOPLASI OG ANDRE HÆMATOLYMFOIDE MALIGNITETER
1. Fremgangsmåde til genetisk screening for at bestemme tilstedeværelsen af eller en prædisponering for en hæmatolymfoid neoplasme eller malignitet, omfattende: at bestemme sekvensen af et LNK gen afledt fra en prøve fra individet, hvor prøven fra individet omfatter blodceller; og at klassificere individet som havende eller værende prædisponeret til en hæmatolymfoid neoplasme eller malignitet hvis den bestemte LNK sekvens har mindst en mutation, hvor LNK mutationen er indenfor pleckstrin homologi (PH) og/eller Src homologi 2 (SH2) domænerne og/eller resulterer i en deletion af alle eller en del af pleckstrin homologi (PH) og/eller SH2 domænerne.
2. Fremgangsmåde ifølge krav 1, hvor LNK mutationen resulterer i en stigning i cytokin signalering i en celle sammenlignet med vildtype LNK.
3. Fremgangsmåde ifølge krav 1, hvor LNK mutationen er valgt blandt: E208Q og 603_607delGCGCT; 613C>G.
4. Fremgangsmåde ifølge krav 1, hvor prøven er en blodprøve.
5. Fremgangsmåde ifølge krav 1, hvor hæmatolymfoid neoplasmen eller maligniteten er en JAK2 V617F-negativ myeloproliferativ neoplasme (MPN).
6. Fremgangsmåde ifølge krav 1, hvor klassificeringstrinnet omfatter sammenligning af den bestemte LNK sekvens med en eller flere reference LNK sekvenser, hvor den ene eller flere reference LNK sekvenser inkluderer en eller begge af: en LNK sekvens fra et individ kendt for at være prædisponeret for en hæmatolymfoid neoplasme eller maglinitet; og en LNK sekvens fra et individ kendt for ikke at være prædisponeret til en hæmatolymfoid neoplasme eller malignitet.
7. Fremgangsmåde ifølge krav l, hvor bestemmelsestrinnet omfatter en eller flere af de følgende: PCR, nukleinsyre hybridisering, sekvensanalyse, og antistof bindingsassay.
8. Fremgangsmåde til at identificere en kandidat som terapeutisk middel til anvendelse i et medikament til at behandle hæmatolymfoid neoplasme eller maglinatet i et individ, idet metoden omfatter: at skabe kontakt mellemen celle omfattende et LNK protein med en mutation indenfor pleckstrin homologi (PH) og/eller Src homologi 2 (SH2) domænerne, og/eller en mutation der resulterer i en deletion af alle eller en del af PH og/eller SH2 domænerne oget middel; og at identificere midlet som en kandidat som terapeutisk middel til behandling af hæmatolymfoid neoplasme eller maglinitet i et individ hvis midlet reducerer cytokin signalering i cellen sammenlignet med en kontrol.
9. Fremgangsmåde ifølge krav 8, hvor LNK mutationen er en mutation som beskrevet i krav 3.
10. Fremgangsmåden ifølge krav 8 eller krav 9, hvor det kontaktskabende trin yderligere omfatter at skabe kontakt mellem cellen og en cytokin.
11. Fremgangsmåde ifølge krav 10, hvor cytokinen er TPO.
DK11733318.7T 2010-01-14 2011-01-12 Mutationer i lnk genet i patienter med myeloproliferativ neoplasi og andre hæmatolymfoide maligniteter DK2524058T3 (da)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US29511710P 2010-01-14 2010-01-14
PCT/US2011/020997 WO2011088125A1 (en) 2010-01-14 2011-01-12 Mutations in the lnk gene in patients with myeloproliferative neoplasms and other hematolymphoid malignancies

Publications (1)

Publication Number Publication Date
DK2524058T3 true DK2524058T3 (da) 2017-02-20

Family

ID=44304624

Family Applications (1)

Application Number Title Priority Date Filing Date
DK11733318.7T DK2524058T3 (da) 2010-01-14 2011-01-12 Mutationer i lnk genet i patienter med myeloproliferativ neoplasi og andre hæmatolymfoide maligniteter

Country Status (6)

Country Link
US (1) US8945846B2 (da)
EP (1) EP2524058B1 (da)
JP (1) JP5959439B2 (da)
DK (1) DK2524058T3 (da)
ES (1) ES2618310T3 (da)
WO (1) WO2011088125A1 (da)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
DE102017107661A1 (de) * 2017-04-10 2018-10-11 Universität Rostock SH2B-Adapterprotein-3 für die Vorhersage einer Knochenmarkantwort und Immunantwort
DE102018125324A1 (de) * 2018-10-12 2020-04-16 Universität Rostock Verfahren zur Vorhersage einer Antwort auf die Therapie von Krankheiten

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2008134759A2 (en) * 2007-04-30 2008-11-06 Cedars-Sinai Medical Center Treatment of myeloproliferative disorders with adaptor protein lnk
GB0803004D0 (en) * 2008-02-19 2008-03-26 Queen Mary & Westfield College Genetic variation associated with coeliac disease

Also Published As

Publication number Publication date
ES2618310T3 (es) 2017-06-21
JP5959439B2 (ja) 2016-08-02
JP2013516988A (ja) 2013-05-16
US20120046233A1 (en) 2012-02-23
WO2011088125A1 (en) 2011-07-21
EP2524058A4 (en) 2013-07-03
US8945846B2 (en) 2015-02-03
EP2524058A1 (en) 2012-11-21
EP2524058B1 (en) 2016-11-09

Similar Documents

Publication Publication Date Title
Rowley et al. All patients with the T (11; 16)(q23; p13. 3) that involves MLL and CBP have treatment-related hematologic disorders
Fröhling et al. Prognostic significance of activating FLT3 mutations in younger adults (16 to 60 years) with acute myeloid leukemia and normal cytogenetics: a study of the AML Study Group Ulm
Döhner et al. Mutant nucleophosmin (NPM1) predicts favorable prognosis in younger adults with acute myeloid leukemia and normal cytogenetics: interaction with other gene mutations
Giagounidis et al. Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies
Solh et al. Core‐binding factor acute myeloid leukemia: heterogeneity, monitoring, and therapy
Jutzi et al. MPN patients harbor recurrent truncating mutations in transcription factor NF-E2
Lossos et al. HGAL is a novel interleukin-4–inducible gene that strongly predicts survival in diffuse large B-cell lymphoma
Matsuno et al. Dual mutations in the AML1 and FLT3 genes are associated with leukemogenesis in acute myeloblastic leukemia of the M0 subtype
Shih et al. AML patients with CEBPα mutations mostly retain identical mutant patterns but frequently change in allelic distribution at relapse: a comparative analysis on paired diagnosis and relapse samples
Chinen et al. The leucine twenty homeobox (LEUTX) gene, which lacks a histone acetyltransferase domain, is fused to KAT6A in therapy‐related acute myeloid leukemia with t (8; 19)(p11; q13)
Giguère et al. CLCA2, a novel RUNX1 partner gene in a therapy-related leukemia with t (1; 21)(p22; q22)
Yamato et al. ASXL2 mutations are frequently found in pediatric AML patients with t (8; 21)/RUNX1‐RUNX1T1 and associated with a better prognosis
Zhang et al. PRDX4, a member of the peroxiredoxin family, is fused to AML1 (RUNX1) in an acute myeloid leukemia patient with at (X; 21)(p22; q22)
Chillon et al. FLT 3-activating mutations are associated with poor prognostic features in AML at diagnosis but they are not an independent prognostic factor
DK2524058T3 (da) Mutationer i lnk genet i patienter med myeloproliferativ neoplasi og andre hæmatolymfoide maligniteter
Park et al. Effects of c-KIT mutations on expression of the RUNX1/RUNX1T1 fusion transcript in t (8; 21)-positive acute myeloid leukemia patients
Smith et al. Development of a human acute myeloid leukaemia screening panel and consequent identification of novel gene mutation in FLT3 and CCND3
Fujiwara et al. Transforming activity of purinergic receptor P2Y, G protein coupled, 8 revealed by retroviral expression screening
Tanaka et al. JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients
Chen et al. Detection of MPL exon10 mutations in 103 Chinese patients with JAK2V617F-negative myeloproliferative neoplasms
Togami et al. A C-terminal mutant of CCAAT-enhancer-binding protein α (C/EBPα-Cm) downregulates Csf1r, a potent accelerator in the progression of acute myeloid leukemia with C/EBPα-Cm
Gratias et al. Activating FLT3 mutations are rare in children with juvenile myelomonocytic leukemia
Baxter et al. Mechanisms of Disease
Ho et al. Precipitation of porphyria cutanea tarda by imatinib mesylate?
Vieira et al. Three‐way translocation (X; 20; 16)(p11; q13; q23) in essential thrombocythemia implicates NFATC2 in dysregulation of CSF2 expression and megakaryocyte proliferation