alexa Three Phenotypes of JAKV617F Mutated Essential Thromboc
ISSN: 2329-8790

Journal of Hematology & Thromboembolic Diseases
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Research Article

Three Phenotypes of JAKV617F Mutated Essential Thrombocythemia and Early Thrombocythemic Stage of Polycythemia Vera in 10 Patients: Important to Differentiate because Natural History Differ

Jan Jacques Michiels1,6*, Zwi Berneman1, Wilfried Schroyens1, Kirsten van Lom2, Konnie Hebeda3, King H. Lam4 and Hendrik De Raeve5
1Departments of Hematology, University Hospital Antwerp, The Netherlands
2Belgium and Erasmus University, Medical Center Rotterdam, The Netherlands
3Departments of Pathology, University Medical Center, Sint Radboud, Nijmegen, Erasmus, The Netherlands
4University Medical Center Rotterdam, The Netherlands
5Department of Pathology, University Hospital, Antwerp, Belgium
6European Working Group on Myeloproliferative Disorders (EWG.MPD), Goodheart, Institute, Rotterdam, The Netherlands
Corresponding Author : Jan Jacques Michiels
Internist, Hendrik De Raeve, Pathologist
The Antwerp MPD Research Unit
Departments of Hematology & Pathology
University Hospital, Antwerp
Wilrijkstraat 10, 2650 Edegem/Antwerp, Belgium
Tel: +31-626970534
E-mail: [email protected]
Received: June 15, 2015 Accepted: July 21, 2015 Published: July 30, 2015
Citation: Michiels JJ, Berneman Z, Schroyens W, Lom KV, Hebeda K, et al. (2015) Three Phenotypes of JAKV617F Mutated Essential Thrombocythemia and Early Thrombocythemic Stage of Polycythemia Vera in 10 Patients: Important to Differentiate because Natural History Differ. J Hematol Thrombo Dis S1:004. doi:10.4172/2329-8790.1000S1004
Copyright: © 2015 Michiels JJ, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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In 10 JAK2V617F positive patients with early myeloproliferative essential thrombocythemia (ET) or polycythemia vera (PV) we sequentially used the Polycythemia Vera Study Group (PVSG), the Thrombocythemia Vera Study Group (TVSG) and the 2008 WHO criteria for the clinical diagnosis of essential thrombocythemia (ET) ad polycythemia vera (PV). Subsequently, we evaluated bone marrow features and laboratory and molecular markers including endogenous erythroid colony (EEC), serum erythropoietine (EPO) mutation for the classification of early MPD. Six symptomatic patients had a delayed diagnosis of slow onset latent (masked) ET and 4 patients presented with rapid onset PV associated with thrombocythemia. We could clearly distinguish three phenotypes of ET when the 2008 European clinical, molecular and pathological (2008 WHO-ECMP) criteria for ET and PV are applied. These include ET phenotype 1, ET phenotype type 2 with features of early polycythemia vera (PV) and normal red cell mass, and ET phenotype 3 associated with megakaryocytic granulocytic myeloproliferation (ET-MGM) in the absence of characteristic features of primary myelofibrosis (PMF). Through the presentation of a number of highly illustrative clinical cases during long-term follow-up we could demonstrate that diagnostic differentiation of three phenotypes of ET is important, because natural history clearly differ.


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