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Myeloproliferative neoplasms (MPN) are clonal hematopoietic disorders sharing a common natural evolution: a chronic phase, characterized by a major risk of vascular events, followed by an accelerated phase eventually leading to transformation to acute leukemia. MPN include polycythemia vera, essential thrombocythemia, primary myelofibrosis, and rarer entities. During the past years, CML became a paradigm for targeted therapy and personalized cancer medicine. For other MPNs, the discovery of the JAK2V617F mutation followed by many other mutations, opened similar perspectives. However, several questions remain to be answered in MPNs regarding the clinical implication of these major scientific discoveries: what is the clinical impact of JAK2V617F and other molecular biomarkers on the risks of complications and progression? Can these new biomarkers be used in the perspective of a personalized therapy of MPNs? his project will focus on the qualification of a series of known mutations as biomarkers in MPNs based on large multicenter cohorts of patients with well-annotated samples
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| Measure | Description | Time Frame |
|---|---|---|
| cumulative incidence or progression | inclusion |
| Measure | Description | Time Frame |
|---|---|---|
| Disease phenotype according to WHO classification | polycythemia vera, essential thrombocythemia, primary myelofibrosis, and others | 3 years |
| Treatment response/resistance | 3 years |
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Inclusion Criteria:
Exclusion Criteria:
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Philadelphia-negative Myeloproliferative neoplasms (MPN)
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre d'Investigations Cliniques | Recruiting | Paris | 75010 | France |
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| ID | Term |
|---|---|
| D009196 | Myeloproliferative Disorders |
| ID | Term |
|---|---|
| D001855 | Bone Marrow Diseases |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
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Molecular markers include mutations in JAK2, MPL, TET2, LNK, CBL, IDH1/2, DNMT3A, EZH2, ASXL1, SF3B1, SRSF2, NRAS/KRAS, and TP53
| Mean life-years gained | The analysis will take into consideration the cost of testing, but also the costs of different treatment options with or without testing, and other disease-related costs dependent on treatment | 3 years |
| Quality-adjusted life years gained | 3 years |
| Centre d'Investigations Cliniques | Recruiting | Paris | 75010 | France |
|