Functional and Phenotypic Characterization of Monocytes in Myeloproliferative Syndromes-PHEMOP

What this Trial Is About

Researchers are studying Philadelphia-negative myeloproliferative neoplasms (MPNs), which are blood disorders involving excessive production of mature myeloid cells due to mutations in JAK2, CALR, or MPL genes. These mutations activate the JAK-STAT pathway, leading to abnormal cell growth. The study focuses on understanding the role of monocytes and macrophages, important immune cells, in the development and variation of these disorders, including polycythemia vera, essential thrombocythemia, prefibrotic primary myelofibrosis, and primary myelofibrosis. The study involves analyzing monocyte signatures from blood samples at diagnosis using surface marker expression, cytokine profiles, and gene expression. These signatures will be examined to find correlations with specific mutations, fibrosis levels, and disease progression. The study is observational in nature but includes detailed diagnostic testing of immune cells to improve understanding of how these cells contribute to MPNs. Participants will provide consent and blood samples for monocyte analysis. Researchers will evaluate diagnosis criteria based on WHO 2016 standards at enrollment and track changes and disease outcomes over 24 months. Assessments include genetic and functional analysis of monocytes, correlations with disease features, and monitoring leukemia-free and myelofibrosis-free survival. The study is sponsored by University Hospital, Angers and aims to identify biomarkers and potential therapeutic targets through comprehensive immune cell characterization.

Functional and Phenotypic Characterization of Monocytes in Myeloproliferative Syndromes