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A higher JAK2 V617F-mutated clone is observed in platelets than in granulocytes from essential thrombocythemia patients, but not in patients with polycythemia vera and primary myelofibrosis

Leukemia volume 21, pages 1331–1332 (2007)Cite this article

Essential thrombocythemia (ET) is a chronic myeloproliferative disorder characterized by megakaryocyte hyperplasia and thrombocytosis. The JAK2 V617F mutation has been reported in a variable proportion of ET patients ranging from 23 to 57%. These percentages have been determined in the majority of studies using granulocytes as the nucleic acid source and depend on the sensitivity of the detection techniques applied, being direct sequencing and allele-specific (AS)-PCR the most frequently used (reviewed by Steensma et al.1). Application of more sensitive techniques such as quantitative real time PCR in DNA from granulocytes has yielded even higher detection rates (75%) mainly in newly diagnosed ET patients.2

Although ET is characterized by a predominant megakaryocytic-platelet lineage involvement, there is scarce information about the prevalence of JAK2 V617F mutation in platelets. We have described the presence of the V617F mutation in growth factor-independent megakaryocytic colonies and also in platelets from five out of six ET patients.3 In a recent study, JAK2 V617F was reported in 24 out of 50 ET patients when platelets were analyzed by AS-RT-PCR and restriction fragment length polymorphism.4 Comparison of JAK2 V617F mutational status by conventional AS-PCR in granulocytes and platelets from 10 ET patients showed no differences in the detection rate between the two populations studied.5 More recently, quantification of the JAK2 V617F in platelets and granulocytes in 13 ET patients showed a higher allele percentage in platelets than in granulocytes in a study that examined the reciprocity between JAK2 mutational status and Mpl expression.6

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Acknowledgements

This work was supported in part by research Grants from FIS 03/345 from Instituto de Salud Carlos III, Amgen Spain and Novartis.

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Authors and Affiliations

  1. Departament de Patologia (Laboratoris de Citologia Hematològica, Citogenètica i Biologia Molecular), Hospital del Mar, IMAS, Barcelona, Spain

    B Bellosillo, L Martínez-Avilés, L Florensa, R Longarón, G Navarro, B Espinet, F Solé & S Serrano

  2. Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain

    B Bellosillo

  3. Departament de Biologia Cel.LULAR, Universitat Autònoma de Barcelona, Barcelona, Spain

    L Martínez-Avilés

  4. Departament d’Hematologia Clínica, Hospital del Mar, IMAS, Barcelona, Spain

    E Gimeno, A Salar & C Besses

  5. Departament de Ciències Morfològiques, Universitat Autònoma de Barcelona, Barcelona, Spain

    S Serrano

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  1. B Bellosillo
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Correspondence to C Besses.

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Bellosillo, B., Martínez-Avilés, L., Gimeno, E. et al. A higher JAK2 V617F-mutated clone is observed in platelets than in granulocytes from essential thrombocythemia patients, but not in patients with polycythemia vera and primary myelofibrosis. Leukemia 21, 1331–1332 (2007). https://doi.org/10.1038/sj.leu.2404649

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