Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel.

  title={Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel.},
  author={Ayalew Tefferi and Juergen Thiele and Attilio Orazi and Hans Michael Kvasnicka and Tiziano Barbui and Curtis A Hanson and Giovanni Barosi and Srdan Verstovsek and Gunnar Birgegard and Ruben A Mesa and John T. Reilly and Heinz Gisslinger and Alessandro Maria Vannucchi and Francisco Cervantes and Guido Finazzi and Ronald Hoffman and Dwight Gary Gilliland and Clara Derber Bloomfield and James W. Vardiman},
  volume={110 4},
The Janus kinase 2 mutation, JAK2617V>F, is myeloid neoplasm-specific; its presence excludes secondary polycythemia, thrombocytosis, or bone marrow fibrosis from other causes. Furthermore, JAK2617V>F or a JAK2 exon 12 mutation is present in virtually all patients with polycythemia vera (PV), whereas JAK2617V>F also occurs in approximately half of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). Therefore, JAK2 mutation screening holds the promise of a decisive… 

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Rationale for revision and proposed changes of the WHO diagnostic criteria for polycythemia vera, essential thrombocythemia and primary myelofibrosis
First major diagnostic criteria of the former WHO classifications for myeloproliferative neoplasm (MPN) are compared and details that have been discussed and will be proposed for the upcoming revision of diagnostic guidelines are focused on.
The revised WHO diagnostic criteria for Ph-negative myeloproliferative diseases are not appropriate for the diagnostic screening of childhood polycythemia vera and essential thrombocythemia.
It is found that the Jak2(V617F) mutation in children occurs less frequently than in adults, and that exon 12 JAK2 mutations are absent, and suggest that childhood MPDs require a set of specific diagnostic criteria.
The 2008 WHO Diagnostic Criteria for Polycythemia Vera , Essential Thrombocythemia , and Primary Myelofi brosis Juergen Thiele
Several international working groups cooperated to propose new diagnostic guidelines for polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofi brosis (PMF) to the steering
Changing Concepts of Diagnostic Criteria of Myeloproliferative Disorders and the Molecular Etiology and Classification of Myeloproliferative Neoplasms: From Dameshek 1950 to Vainchenker 2005 and Beyond
The Polycythemia Vera Study Group (PVSG) and WHO classifications distinguished the Philadelphia (Ph1) chromosome-positive chronic myeloid leukemia from the Ph1-negative myeloproliferative neoplasms
The European Clinical, Molecular, and Pathological (ECMP) Criteria and the 2007/2008 Revisions of the World Health Organization for the Diagnosis, Classification, and Staging of Prefibrotic Myeloproliferative Neoplasms Carrying the JAK2V617F Mutation
Normocellular ET, prodromal PV, and classical PV show overlapping bone marrow biopsy histology features with similar pleomorphic clustered megakaryocytes in the prefibrotic stages of JAK2V617F mutated MPN.
The diagnosis and management of polycythemia vera, essential thrombocythemia, and primary myelofibrosis in the JAK2 V617F era.
  • H. Zhan, J. Spivak
  • Medicine, Biology
    Clinical advances in hematology & oncology : H&O
  • 2009
The discovery that many patients with polycythemia vera, essential thrombocythemia, and primary myelofibrosis express a mutation in the Janus Kinase 2 gene (JAK2 V617F), a kinase essential for the normal development of erythrocytes, granulocytes, and platelets, provided a molecular explanation for the unregulated hematopoiesis.
Evaluation of serum erythropoietin values as defined by 2016 World Health Organization criteria for the diagnosis of polycythemia vera
The diagnosis of PV was made according to the previously published criteria, which included JAK2 positivity, a Cr-51 red cell mass of more than 125% of expected volume, and a marrow biopsy consistent with PV, with no significant gender difference.
Unclassifiable non-CML classical myeloproliferative diseases with microcytosis: findings indicating diagnosis of polycythemia vera masked by iron deficiency
The aim of this study was to investigate the clinical characteristics of the patients with unclassifiable non-CML classical myeloproliferative disease with microcytosis (MPD/M) and nonelevated Hgb and Hct levels at diagnosis and to determine if some of these cases could be real PV cases masked due to ID-related microcyTosis.
Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F.
  • B. Stein, S. Oh, R. Hoffman
  • Medicine, Biology
    Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 2015
This review comprehensively review clinical aspects of PV including diagnostic considerations, natural history, and risk factors for thrombosis and provides a framework for practicing hematologists and oncologists to make rational treatment decisions for patients with PV.


The impact of clinicopathological studies on staging and survival in essential thrombocythemia, chronic idiopathic myelofibrosis, and polycythemia rubra vera.
Examination of bone marrow specimens enhances the diagnostic reliability and also enables the recognition of evolving myelofibrotic transformation in MPDs, and in multivariate risk classification, signs of myeloid metaplasia have the most important impact on prognosis.
Clinicopathological criteria for differential diagnosis of thrombocythemias in various myeloproliferative disorders.
A scrutinized discrimination of thrombocythemias resulting in a clear-cut diagnosis of true versus false ET is warranted by a professional evaluation of BM biopsies in ongoing and prospective clinical trials.
Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis
Sequencing is compared with two techniques of real-time PCR-based mutation detection for the efficiency to detect the JAK2 V617F mutation in 119 samples from patients with suspicion of myeloproliferative disorder (MPD).
Clinicopathological diagnosis and differential criteria of thrombocythemias in various myeloproliferative disorders by histopathology, histochemistry and immunostaining from bone marrow biopsies.
The revised criteria for ET, PV and IMF are reliable by taking histopathological features from bone marrow biopsies into consideration, particularly for the diagnosis of ET and its differentiation from thrombocythemias as a presenting symptom accompanying the various subtypes of MPDs.
Experience of the Polycythemia Vera Study Group with essential thrombocythemia: a final report on diagnostic criteria, survival, and leukemic transition by treatment.
It is rational to suggest that lower doses of aspirin might be associated with less hemorrhage and, perhaps, a beneficial effect on thrombosis and the role of antithrombotic agents such as aspirin in ET remains to be shown.
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.
JAK2V617F occurs in a high proportion of patients with Budd-Chiari Syndrome and is of use in the characterization of latent MPD in BCS, and was missed in a substantial number of subjects by using standard techniques.
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
Diagnosis of essential thrombocythemia at platelet counts between 400 and 600x10(9)/L. Gruppo Italiano Malattie Mieloproliferative Croniche(GIMMC).
It is demonstrated that a platelet count above 600x10(9)/L is not a reliable diagnostic criterion for ET, especially in the early stages, and the need for new criteria for the diagnosis of ET is outlined.
The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes.
The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders.
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
Four somatic gain-of-function mutations affecting JAK2 exon 12 define a distinctive myeloproliferative syndrome that affects patients who currently receive a diagnosis of polycythemia vera or idiopathic erythrocytosis.