http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2020239961-A1
Outgoing Links
Predicate | Object |
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assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_df874e3cf88adba3792dc9d5b5776180 |
classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-57426 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-574 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6886 |
filingDate | 2016-06-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b458e2624ec61b196523502724fa8a1b http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_83a19e290163b514f22b312652b242be http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_aa06296a3b0ff13ebcdf40ce6301b3bd http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_343878e34da566f20ced9d4b7bd6ef37 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_40035a3bed5c7da50cbd9118cbef75ac http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_68094fc7d9cf0e8e92e8cbd8940f6016 |
publicationDate | 2020-07-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | US-2020239961-A1 |
titleOfInvention | Prognostic marker for myeloproliferative neoplasms |
abstract | 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 predisposes 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. |
priorityDate | 2015-06-25-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 393.