- 专利标题: Prognostic marker for myeloproliferative neoplasms
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申请号: US15739454申请日: 2016-06-24
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公开(公告)号: US11732303B2公开(公告)日: 2023-08-22
- 发明人: Christine Bellane-Chantelot , Isabelle Plo , William Vainchenker , Cécile Saint-Martin , Antonio D Di Stefano , Joseph Saliba
- 申请人: Institut Gustave-Roussy
- 申请人地址: FR Villejuif
- 专利权人: Institut Gustave-Roussy
- 当前专利权人: Institut Gustave-Roussy
- 当前专利权人地址: FR Villejuif
- 代理机构: Potomac Law Group, PLLC
- 代理商 Rouget F. Henschel
- 优先权: EP 306001 2015.06.25
- 国际申请: PCT/EP2016/064754 2016.06.24
- 国际公布: WO2016/207405A 2016.12.29
- 进入国家日期: 2018-09-07
- 主分类号: C12Q1/6886
- IPC分类号: C12Q1/6886 ; G01N33/574
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.
公开/授权文献
- US20200239961A1 PROGNOSTIC MARKER FOR MYELOPROLIFERATIVE NEOPLASMS 公开/授权日:2020-07-30
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