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公开(公告)号：US10662482B2
公开(公告)日：2020-05-26
申请号：US15177055
申请日：2016-06-08
申请人： INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) , INSTITUT GUSTAVE-ROUSSY , ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS , CENTRE HENRI BECQUEREL , UNIVERSITE PARIS DESCARTES , UNIVERSITE PIERRE ET MARIE CURIE (PARIS 6) , UNIVERSITE PARIS-SUD
发明人： Franck Viguie , Olivier Bernard , Michaela Fontenay , Christian Bastard , Francois Delhommeau , William Vainchenker
IPC分类号： C12Q1/6886 , G01N33/574 , A61K31/7068
摘要： The present invention concerns an in vitro method for diagnosing a myeloid tumour or a lymphoid tumour in a subject, which comprises the step of analyzing a biological sample from said subject by (i) detecting the presence of a mutation in the Ten Eleven Translocation protein family member 2 gene (TET2) coding for the polypeptide having the sequence SEQ ID NO: 2, and/or (ii) analyzing the expression of the TET2 gene; wherein the detection of such a TET2 mutation, of the absence of expression of TET2 or of the expression of a truncated TET2 is indicative of a subject developing or predisposed to develop a myeloid tumour or a lymphoid tumour.
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2.发明申请TET2 AS A DIAGNOSTIC AND PRONOSTIC MARKER IN HEMATOPOIETIC NEOPLASMS 审中-公开TET2作为HEMATOPOIETIC NEOPLASMS中的诊断和诊断标记公开(公告)号：US20160319370A1
公开(公告)日：2016-11-03
申请号：US15177055
申请日：2016-06-08
申请人： INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) , INSTITUT GUSTAVE-ROUSSY , ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS , CENTRE HENRI BECQUEREL , UNIVERSITE PARIS DESCARTES , UNIVERSITE PIERRE ET MARIE CURIE (PARIS 6) , UNIVERSITE PARIS-SUD
发明人： Franck Viguie , Olivier Bernard , Michaela Fontenay , Christian Bastard , Francois Delhommeau , William Vainchenker
IPC分类号： C12Q1/68 , A61K31/7068
CPC分类号： C12Q1/6886 , A61K31/7068 , C12Q2600/106 , C12Q2600/118 , C12Q2600/154 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , G01N33/57426
摘要： The present invention concerns an in vitro method for diagnosing a myeloid tumour or a lymphoid tumour in a subject, which comprises the step of analyzing a biological sample from said subject by (i) detecting the presence of a mutation in the Ten Eleven Translocation protein family member 2 gene (TET2) coding for the polypeptide having the sequence SEQ ID NO: 2, and/or (ii) analyzing the expression of the TET2 gene; wherein the detection of such a TET2 mutation, of the absence of expression of TET2 or of the expression of a truncated TET2 is indicative of a subject developing or predisposed to develop a myeloid tumour or a lymphoid tumour.
摘要翻译： 本发明涉及一种用于诊断受试者中骨髓瘤或淋巴样肿瘤的体外方法，其包括通过以下步骤：分析来自所述受试者的生物样品：（i）检测十一易位蛋白家族中的突变的存在 编码具有序列SEQ ID NO：2的多肽的成员2基因（TET2）和/或（ii）分析TET2基因的表达; 其中检测这种TET2突变，不存在TET2的表达或截短的TET2的表达指示受试者发展或倾向于发展骨髓瘤或淋巴样肿瘤。
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公开(公告)号：US11203788B2
公开(公告)日：2021-12-21
申请号：US16843507
申请日：2020-04-08
申请人： INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) , INSTITUT GUSTAVE-ROUSSY , Assistance Publique—Hopitaux de Paris , Centre Henri Becquerel , Universite Paris Descartes , Universite Pierre et Marie Curie , Universite Paris—SUD
发明人： Franck Viguie , Olivier Bernard , Michaela Fontenay , Christian Bastard , Francois Delhommeau , William Vainchenker
IPC分类号： C12Q1/6886 , G01N33/574 , A61K31/7068
摘要： The present invention concerns an in vitro method for diagnosing a myeloid tumour or a lymphoid tumour in a subject, which comprises the step of analyzing a biological sample from said subject by (i) detecting the presence of a mutation in the Ten Eleven Translocation protein family member 2 gene (TET2) coding for the polypeptide having the sequence SEQ ID NO: 2, and/or (ii) analyzing the expression of the TET2 gene; wherein the detection of such a TET2 mutation, of the absence of expression of TET2 or of the expression of a truncated TET2 is indicative of a subject developing or predisposed to develop a myeloid tumour or a lymphoid tumour.
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4.发明申请公开(公告)号：US20130189683A1
公开(公告)日：2013-07-25
申请号：US13768709
申请日：2013-02-15
申请人： Assistance Publique - Hopitaux De Paris , IGR&D SA , Institut National De La Sante Et De La Recherche Medicale (INSERM) , Institut Gustave-Roussy , Universite De Versailles - St Quentin En Yvelines , Universite Paris-Sud
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6813 , C12N9/1205 , C12N15/113 , C12Q1/6883 , C12Q2600/156 , G01N33/57426 , G01N33/57496 , G01N2333/91215 , G01N2500/04
摘要： 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.
摘要翻译： 本发明涉及蛋白质 - 酪氨酸激酶JAK2的V617F变体，所述变体负责Vaquez Polyglobulia。 本发明还涉及允许其与骨髓增生性疾病相关的红细胞增多症和血小板增多症的第一意图诊断方法，或用于检测骨髓增生性疾病中的JAK2 V617F变体，从而允许其在新的神经学组中重新分类。
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公开(公告)号：US11162100B2
公开(公告)日：2021-11-02
申请号：US16734854
申请日：2020-01-06
申请人： Institut Gustave-Roussy , Institut National de la Sante et de la Recherche Medicale (INSERM) , Assistance Publique—Hopitaux de Paris , Universite de Versailles—St Quentin en Yvelines , Universite Paris—SUD
IPC分类号： C12N15/113 , C12N9/12 , G01N33/574 , C12Q1/6883 , C12Q1/6813
摘要： 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.
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公开(公告)号：US08852931B2
公开(公告)日：2014-10-07
申请号：US13768709
申请日：2013-02-15
申请人： Assistance Publique—Hopitaux de Paris , IGR&D SA , Institut National de la Sante et de la Recherche Medicale (INSERM) , Institut Gustave-Roussy , Universite de Versailles—St Quentin en Yvelines , Universite Paris-Sud
IPC分类号： C12N9/12 , C12N15/63 , C07H21/04 , G01N33/574 , C12Q1/68
CPC分类号： C12Q1/6813 , C12N9/1205 , C12N15/113 , C12Q1/6883 , C12Q2600/156 , G01N33/57426 , G01N33/57496 , G01N2333/91215 , G01N2500/04
摘要： 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.
摘要翻译： 本发明涉及蛋白质 - 酪氨酸激酶JAK2的V617F变体，所述变体负责Vaquez Polyglobulia。 本发明还涉及允许其与骨髓增生性疾病相关的红细胞增多症和血小板增多症的第一意图诊断方法，或用于检测骨髓增生性疾病中的JAK2 V617F变体，从而允许其在新的神经学组中重新分类。
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公开(公告)号：US10563200B2
公开(公告)日：2020-02-18
申请号：US16424976
申请日：2019-05-29
申请人： Institut Gustave-Roussy , Institut National de la Sante et de la Rescherche Medicale (INSERM) , Assistance Publique—Hopitaux de Paris , Universite de Versailles—St Quentin en Yvelines , Universite Paris—Sud
IPC分类号： C12N15/113 , G01N33/574 , C12Q1/6883 , C12Q1/6813 , C12N9/12
摘要： 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.
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公开(公告)号：US20140249204A1
公开(公告)日：2014-09-04
申请号：US14164880
申请日：2014-01-27
申请人： Institut Gustave-Roussy , Institut National De La Sante Et De La Rechereche Scientifique (Inserm) , Universite Paris-Sud , Universite De Versailles - St Quentin En Yvelines , Assistance Publique-Hopitaux De Paris
IPC分类号： C12Q1/68 , C12N15/113
CPC分类号： C12Q1/6813 , C12N9/1205 , C12N15/113 , C12Q1/6883 , C12Q2600/156 , G01N33/57426 , G01N33/57496 , G01N2333/91215 , G01N2500/04
摘要： 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.
摘要翻译： 本发明涉及蛋白质 - 酪氨酸激酶JAK2的V617F变体，所述变体负责Vaquez Polyglobulia。 本发明还涉及允许其与骨髓增生性疾病相关的红细胞增多症和血小板增多症的第一意图诊断方法，或用于检测骨髓增生性疾病中的JAK2 V617F变体，从而允许其在新的神经学组中重新分类。
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公开(公告)号：US10364430B2
公开(公告)日：2019-07-30
申请号：US14164880
申请日：2014-01-27
申请人： Institut Gustave-Roussy , INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE SCIENTIFIQUE MEDICALE (INSERM) , ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS , UNIVERSITE DE VERSAILLES—ST QUENTIN EN YVELINES , UNIVERSITE PARIS-SUD
IPC分类号： C12N9/12 , C12N15/113 , C12Q1/6813 , C12Q1/6883 , G01N33/574
摘要： 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.
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公开(公告)号：US11732303B2
公开(公告)日：2023-08-22
申请号：US15739454
申请日：2016-06-24
发明人： Christine Bellane-Chantelot , Isabelle Plo , William Vainchenker , Cécile Saint-Martin , Antonio D Di Stefano , Joseph Saliba
IPC分类号： C12Q1/6886 , G01N33/574
CPC分类号： C12Q1/6886 , G01N33/57426 , C12Q2600/156
摘要： The present inventors identified for the first time a germline genomic alteration that accounts for familial myeloproliferative neoplasms (MPN) and myeloid malignancies. More precisely, they identified a 700 kb germline duplication that proposes patients to essential thrombocythemia (ET) with a high frequency of evolution to myelofibrosis (MF), secondary myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML). Two out of the 6 duplicated genes (namely ATG2B and GSKIP) have been shown to be overexpressed in hematopoietic progenitors, and this overexpression cooperates with classical mutations in JAK2, MPL, and CALR to generate the MPN phenotype. The presence of the 700 kb germline duplication is thus of poor prognosis for a MPN patient. The present invention discloses a method for detecting a predisposition of developing a MPN, as well as a prognostic method for assessing the probability that an ET-suffering patient will develop a myelofibrosis, a secondary MDS or an AML. It also discloses a treating method for delaying MPN worsening, said treating method involving the inhibition of the ATG2B and GSKIP duplicated genes.
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