IDENTIFICATION OF A JAK2 MUTATION IN POLYCYTHEMIA VERA

• US 20140249204A1
• Filed: 01/27/2014
• Published: 09/04/2014
• Est. Priority Date: 10/27/2004
• Status: Active Grant

• Current Assignee: Institut National De La Sante Et De La Recherche Medicale (Inserm) (Allianz Global Investors GmbH), Assistance Publique - Hopitaux De Paris, Institut Gustave Roussy, Universite De Versailles - St. Quentin En Yvelines, Universite Paris - Sud
• Original Assignee: Institut National De La Sante Et De La Recherche Medicale (Inserm) (Allianz Global Investors GmbH), Assistance Publique - Hopitaux De Paris, Institut Gustave Roussy, Universite De Versailles - St. Quentin En Yvelines, Universite Paris - Sud
• Inventors: Vainchenker, William, Ugo, Valeria, Chloe, James, Casadevall, Nicole, Couedic, Jean-Pierre Le
• Granted Patent: US 10,364,430 B2
• Time in Patent Office: Days
• US Class Current: 514/44.A
• CPC Class Codes: A61P 19/08 for bone diseases, e.g. rachitism, Paget's disease
• CPC Class Codes: A61P 35/00 Antineoplastic agents
• CPC Class Codes: A61P 43/00 Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
• CPC Class Codes: A61P 7/00 Drugs for disorders of the blood or the extracellular fluid
• CPC Class Codes: C12N 15/113 Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing when used in plants C12N15/8218
• CPC Class Codes: C12N 9/1205 Phosphotransferases with an alcohol group as acceptor (2.7.1), e.g. protein kinases
• CPC Class Codes: C12Q 1/6813 Hybridisation assays
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers
• CPC Class Codes: G01N 2333/91215 with a definite EC number (2.7.1.-)
• CPC Class Codes: G01N 2500/04 Screening involving studying the effect of compounds C directly on molecule A (e.g. C are potential ligands for a receptor A, or potential substrates for an enzyme A)
• CPC Class Codes: G01N 33/57426 leukemia
• CPC Class Codes: G01N 33/57496 involving intracellular compounds

Abstract

The present invention concerns the V617F variant of the protein-tyrosine kinase JAK2, said variant being responsible for Vaquez Polyglobulia. The invention also relates to a first intention diagnostic method for erythrocytosis and thrombocytosis allowing their association with myeloproliferative disorders, or to the detection of the JAK2 V617F variant in myeloproliferative disorders allowing their reclassification in a new nosological group.

Claims

1-20. -20. (canceled)

21. A method, comprising:

a) obtaining and analyzing a nucleic acid sample from a human patient suspected of having essential thrombocythemia (ET) or myelofibrosis, wherein the analyzing comprises;

a1) sequencing a region of the nucleic acid sample comprising position 2343 of SEQ ID NO;

2, or

a2) hybridizing the nucleic acid sample with at least one probe comprising at least 10 consecutive nucleotides of SEQ ID NO;

2 comprising position 2343 of SEQ ID NO;

2;

b) detecting the presence or absence of a thymine (T) in the JAK2 gene at position 2343 of SEQ ID NO;

2 in the nucleic acid sample; and

c) if T is present at position 2343, treating the patient for essential thrombocythemia (ET) or myelofibrosis.

22. The method of claim 21, wherein the at least one probe is labeled with at least one marker and detecting comprises detection of the signal produced by the at least one probe.

23. The method of claim 21, wherein the hybridizing comprises hybridizing with at least two probes.

24. The method of claim 21, wherein in step c) the patient is treated without quantifying red cell mass or quantifying erythroid endogenous colonies (EEC).