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JAK2 V617F mutation analysis in different myeloid lineages (granulocytes, platelets, CFU-MK, BFU-E and CFU-GM) in essential thrombocythemia patients

Leukemia volume 20, pages 1903–1905 (2006)Cite this article

Myeloproliferative disorders (MPD) are a heterogeneous group of clonal hematopoietic stem cell malignancies that classically include four related entities: chronic myelogenous leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IM). With the exception of IM, all of these disorders are characterized by increased hematopoiesis and overproduction of blood elements, with the predominance of one myeloid lineages. In CML, the granulocytic lineage is the most hyperplastic, whereas the erythroblastic and megakaryocytic lineage are predominantly involved in PV and ET, respectively. These diseases are characterized by a clonal hematopoiesis, which involve the hematopoietic stem cells, as all myeloid lineages are monoclonal.

A hallmark of MPD is the independence or hypersensitivity of hematopoietic progenitors to numerous cytokines. In PV, one of the most relevant characteristics is endogenous erythroid colony formation (eBFU-E). Erythroid progenitor cells proliferate in semisolid cultures in the absence of exogenous erythropoietin (EPO). Similar growth pattern is observed in a significant proportion of patients with ET and IM, but never in healthy individuals. Some studies have revealed that erythroid colony formation (BFU-E) in PV are hypersensitive not only to EPO but also to several other hematopoietic growth factors, including interleukin (IL)-3, stem cell factor, granulocyte–macrophage colony-stimulating factor (GM-CSF), insulin-like growth factor and thrombopoietin (TPO). Several studies have revealed that megakaryocytic colony formation (CFU-Mk) is growth factors-independent in the majority of ET patients. This endogenous megakaryocytic colony formation (eCFU-MK) has also been shown, but in a lesser degree, in some PV, IM and even in CML, but not in reactive thrombocytosis.

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Acknowledgements

This work was supported by the Grants FIS PI030345, C03/07 and C03/10 from the Spanish Ministry of Health.

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Authors and Affiliations

  1. Laboratori de Citologia Hematològica, Departament de Patologia, Hospital del Mar, IMAS, Barcelona, Spain

    L Florensa, E Puigdecanet, E Pérez-Vila, R M Vilà & S Serrano

  2. Unitat de Recerca en Neoplàsies Hematològiques-Parc Recerca Biomèdica Barcelona (URNHE-PRBB), Barcelona, Spain

    L Florensa, B Bellosillo, C Besses, E Puigdecanet, B Espinet, E Pérez-Vila, F Solé & S Serrano

  3. Laboratori de Citogenètica i Biologia Molecular, Departament de Patologia, Hospital del Mar, IMAS, Barcelona, Spain

    B Bellosillo, E Puigdecanet, B Espinet, R Longarón, F Solé & S Serrano

  4. Servei d'Hematologia Clínica, Hospital del Mar, IMAS, Barcelona, Spain

    C Besses

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  1. L Florensa
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  2. B Bellosillo
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Correspondence to L Florensa.

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Florensa, L., Bellosillo, B., Besses, C. et al. JAK2 V617F mutation analysis in different myeloid lineages (granulocytes, platelets, CFU-MK, BFU-E and CFU-GM) in essential thrombocythemia patients. Leukemia 20, 1903–1905 (2006). https://doi.org/10.1038/sj.leu.2404341

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