Study of Monocyte Function and Characteristics in Philadelphia-Negative Myeloproliferative Syndromes Including Polycythemia Vera, Essential Thrombocythemia, and Myelofibrosis

What this Trial Is About

Philadelphia-negative myeloproliferative neoplasms MPNs are blood disorders characterized by excessive production of mature myeloid cells due to mutations in JAK2, CALR, or MPL genes. These mutations activate the JAK-STAT pathway leading to cell proliferation. This study investigates the role of monocytes and macrophages, important immune cells, in the development and diversity of MPNs, aiming to better understand disease mechanisms and identify potential biomarkers and therapeutic targets, with a focus on subtypes like polycythemia vera, essential thrombocythemia, and myelofibrosis. The study evaluates monocyte signatures from peripheral blood samples using surface marker expression, cytokine profiles, and gene expression. Participants diagnosed with MPN subtypes will have samples collected at diagnosis to analyze these immune cells. This diagnostic study does not involve treatment but focuses on detailed characterization of monocytes linked to disease features. It is conducted as a single-group interventional study primarily for diagnostic purposes. Participants will provide blood samples at the start of the study, with follow-up assessments planned up to 24 months to correlate monocyte characteristics with genetic mutations, fibrosis grade, and disease progression. Researchers will measure outcomes such as diagnosis accuracy, prognostic value of monocyte signatures, and survival free from leukemia or myelofibrosis. The study involves ongoing monitoring and data collection to understand monocyte roles in disease evolution.

Functional and Phenotypic Characterization of Monocytes in Myeloproliferative Syndromes