Myeloproliferative Neoplasms
Conditions
Brief summary
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
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Patients suffering from Myeloproliferative neoplasms (MPN) diagnosed between 2005 and 2013 * Sample DNA diagnostics available: 500 mcg * Untreated or treated with hydroxyurea, ruxolitinib, alpha interferon, * Patient has given his(her) own consent for the use of the sample for research on the pathology and genetic analyzes
Exclusion criteria
* Refused to participate * Patient treated with another molecule that hydroxyurea, ruxolitinib, or alpha interferon
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| cumulative incidence or progression | inclusion |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Disease phenotype according to WHO classification | 3 years | polycythemia vera, essential thrombocythemia, primary myelofibrosis, and others |
| Treatment response/resistance | 3 years | — |
| Mean life-years gained | 3 years | 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 |
| Quality-adjusted life years gained | 3 years | — |
Countries
France
Outcome results
None listed