Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF)

Michiels, Jan; Bernema, Z.; Bockstaele, Dirk Van; Raeve, Hendrik De; Schroyens, Wilfried

doi:10.1016/j.patbio.2006.06.002

Cited by 41 publications

(28 citation statements)

References 84 publications

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“…In fact, more than 90% of patients affected by polycythemia vera and approximately 50% of those with essential thrombocythemia or primary myelofibrosis are carriers of the somatic JAK2 V617F mutation in their granulocytes [8]. These findings have led some authors to reconsider the WHO classification of Philadelphia-negative chronic myeloproliferative diseases [9][10][11][12]. Although much more uncommon, this mutation also may be detected in other atypical myeloproliferative disorders, and very occasionally in myelodysplastic syndromes [13][14][15].…”

Section: Discussionmentioning

confidence: 99%

Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status

et al. 2008

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The World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues (2001) defined a provisional entity named refractory anemia with ringed sideroblasts associated to marked thrombocytosis (RARS-MT). Diagnosis of RARS-MT requires more than 15% of ringed sideroblasts in bone marrow aspirate and the existence of a thrombocytosis in blood, with a platelet count above 600 x 10(9)/L. Nevertheless, controversy exists regarding this platelet count "cut-off" value and, when RARS-MT was defined, the JAK2 mutation and its importance in the study of myeloproliferative disorders was unknown. We present the results of a Spanish retrospective multicentric study, which includes 76 cases of RARS with associated thrombocytosis (platelet count above 400 x 10(9)/L) at diagnosis (RARS-T), 36 of them with a platelet count above 600 x 10(9)/L. Our aim was to analyze their clinical, analytical and morphological characteristics, and to establish correlations with the JAK2 mutational status.

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Section: Discussionmentioning

confidence: 99%

Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status

et al. 2008

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“…The difficulties in the UK PVSG criteria for PV are solved by the Thrombocythemia Vera Study Group in 2000 [31,32] and subsequently by the WHO European Clinical, Molecular and Pathological (ECMP) criteria after the discovery of the JAK2 V617F mutation (fig. 3) [13,33,34,35,36,37,38,39]. The presence of EEC in vitro with no or slight splenomegaly, normal platelet counts (<400 × 10 9 /l), increased RCM and/or erythrocytes (>6.0 × 10 12 /l) and a PV bone marrow histology is indicative for erythremic stage 1 PV (table 2).…”

Section: Shortcomings Of the Pvsg Criteria For Pvmentioning

confidence: 99%

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

et al. 2014

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The Polycythemia Vera Study Group (PVSG) and WHO classifications distinguished the Philadelphia (Ph¹) chromosome-positive chronic myeloid leukemia from the Ph¹-negative myeloproliferative neoplasms (MPN) essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (MF) or primary megakaryocytic granulocytic myeloproliferation (PMGM). Half of PVSG/WHO-defined ET patients show low serum erythropoietin levels and carry the JAK2^V617F mutation, indicating prodromal PV. The positive predictive value of a JAK2^V617F PCR test is 95% for the diagnosis of PV, and about 50% for ET and MF. The WHO-defined JAK2^V617F-positive ET comprises three ET phenotypes at clinical and bone marrow level when the integrated WHO and European Clinical, Molecular and Pathological (ECMP) criteria are applied: normocellular ET (WHO-ET), hypercellular ET due to increased erythropoiesis (prodromal PV) and hypercellular ET associated with megakaryocytic granulocytic myeloproliferation (EMGM). Four main molecular types of clonal MPN can be distinguished: JAK2^V617F-positive ET and PV; JAK2 wild-type ET carrying the MPL⁵¹⁵; mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients. The JAK2^V617F mutation load is low in heterozygous normocellular WHO-ET. The JAK2^V617F mutation load in hetero-/homozygous PV and EMGM is clearly related to MPN disease burden in terms of splenomegaly, constitutional symptoms and fibrosis. The JAK2 wild-type ET carrying the MPL⁵¹⁵ mutation is featured by clustered small and giant megakaryocytes with hyperlobulated stag-horn-like nuclei, in a normocellular bone marrow (WHO-ET), and lacks features of PV. JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustered large immature dysmorphic megakaryocytes and bulky (cloud-like) hyperchromatic nuclei, which are never seen in WHO-ECMP-defined JAK2^V617F mutated ET, EMGM and PV, and neither in JAK2 wild-type ET carrying the MPL⁵¹⁵ mutation. Two thirds of JAK2/MPL wild-type ET and MF patients carry one of the CALR mutations as the cause of the third distinct MPN entity. WHO-ECMP criteria are recommended to diagnose, classify and stage the broad spectrum of MPN of various molecular etiologies.

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“…Essential thrombocytosis is a chronic myeloproliferative disorder characterized by persistent thrombocytosis greater than 400.000/mm 3 and confirmed by a bone marrow biopsy demonstrating megakaryocytic hyperplasia. The diagnosis is established by excluding other myeloproliferative disorders and secondary causes of thrombocytosis such as splenectomy, malignancy, chronic inflammatory diseases, iron-deficiency anemia, and acute blood loss.…”

Section: Discussionmentioning

confidence: 99%

“…[2] Despite the recent identification of some mutations such as the JAK2V617F, the detailed pathogenetic mechanism is still a matter of discussion. [3] Essential thrombocytosis is rarely recognized as an isolated predisposing factor in patients with thromboembolic events. In the presence of thrombogenic lesions such as arterial aneurysm, atherosclerotic plaque formation, and/or dissection, ET increases the risk of associated thrombosis and, therefore, should be excluded to confirm the pathogenesis of arterial thrombosis.…”

Section: Discussionmentioning

confidence: 99%

Peripheral bypass grafting in a patient with essential thrombocytosis: What should a vascular surgeon know?

Onan¹

2012

Turk Gogus Kalp Dama

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Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF)

Cited by 41 publications

References 84 publications

Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status

Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status

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

Peripheral bypass grafting in a patient with essential thrombocytosis: What should a vascular surgeon know?

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