Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2019 Sep;186(5):785-788.
doi: 10.1111/bjh.15954. Epub 2019 May 14.

Next generation sequencing redefines a triple negative essential thrombocythaemia as double-positive with rare mutations on JAK2 V617 and MPL W515 hotspots

Annaëlle Beucher  1   2 , Mammoun Dib  2   3 , Corentin Orvain  2   3   4   5 , Anne Bouvier  1   2   4   5 , Rebecca Jouanneau-Courville  1   2 , Irène Dobo  1   2 , Laurane Cottin  1   2   5 , Philippe Guardiola  2   4   5   6 , Marie-Christine Rousselet  4   7 , Odile Blanchet  1   2   4   5   8 , Mathilde Hunault  2   3   4   5 , Valérie Ugo  1   2   4   5 , Damien Luque Paz  1   2   4   5
Affiliations
Case Reports

Next generation sequencing redefines a triple negative essential thrombocythaemia as double-positive with rare mutations on JAK2 V617 and MPL W515 hotspots

Annaëlle Beucher et al. Br J Haematol. 2019 Sep.
No abstract available

Keywords: essential thrombocythaemia; molecular biology; molecular haematology; myeloproliferative disease; next generation sequencing.

PubMed Disclaimer

References

    1. Antonioli, E., Carobbio, A., Pieri, L., Pancrazzi, A., Guglielmelli, P., Delaini, F., Ponziani, V., Bartalucci, N., Tozzi, L., Bosi, A., Rambaldi, A., Barbui, T. & Vannucchi, A.M. (2010) Hydroxyurea does not appreciably reduce JAK2 V617F allele burden in patients with polycythemia vera or essential thrombocythemia. Haematologica, 95, 1435-1438.
    1. Besses, C., Álvarez-Larrán, A., Martínez-Avilés, L., Mojal, S., Longarón, R., Salar, A., Florensa, L., Serrano, S. & Bellosillo, B. (2011) Modulation of JAK2 V617F allele burden dynamics by hydroxycarbamide in polycythaemia vera and essential thrombocythaemia patients: JAK2 V617F Modulation by Hydroxyurea. British Journal of Haematology, 152, 413-419.
    1. Cabagnols, X., Favale, F., Pasquier, F., Messaoudi, K., Defour, J.P., Ianotto, J.C., Marzac, C., Le Couédic, J.P., Droin, N., Chachoua, I., Favier, R., Diop, M.K., Ugo, V., Casadevall, N., Debili, N., Raslova, H., Bellanné-Chantelot, C., Constantinescu, S.N., Bluteau, O., Plo, I. & Vainchenker, W. (2016) Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients. Blood, 127, 333-342.
    1. Defour, J.-P., Chachoua, I., Pecquet, C. & Constantinescu, S.N. (2016) Oncogenic activation of MPL/thrombopoietin receptor by 17 mutations at W515: implications for myeloproliferative neoplasms. Leukemia, 30, 1214-1216.
    1. Dusa, A., Staerk, J., Elliott, J., Pecquet, C., Poirel, H.A., Johnston, J.A. & Constantinescu, S.N. (2008) Substitution of pseudokinase domain residue Val-617 by large non-polar amino acids causes activation of JAK2. Journal of Biological Chemistry, 283, 12941-12948.

LinkOut - more resources